Links from Protein
Items: 1 to 20 of 126
1.
rs1486631172 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:138218284
(GRCh38)
6:138539421
(GRCh37)
- Canonical SPDI:
- NC_000006.12:138218283:T:C
- Gene:
- ARFGEF3 (Varview), PBOV1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
2.
rs1465828112 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:138218305
(GRCh38)
6:138539442
(GRCh37)
- Canonical SPDI:
- NC_000006.12:138218304:T:C
- Gene:
- ARFGEF3 (Varview), PBOV1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
- Validated:
- by frequency
- MAF:
C=0.000005/1
(GnomAD_exomes)
- HGVS:
3.
rs1464329390 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 6:138218168
(GRCh38)
6:138539305
(GRCh37)
- Canonical SPDI:
- NC_000006.12:138218167:T:A
- Gene:
- ARFGEF3 (Varview), PBOV1 (Varview)
- Functional Consequence:
- synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
4.
rs1459982736 has merged into rs1266656630 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATTTCATTGAGGAAC>-,ATTTCATTGAGGAACATTTCATTGAGGAAC
[Show Flanks]
- Chromosome:
- 6:138218107
(GRCh38)
6:138539244
(GRCh37)
- Canonical SPDI:
- NC_000006.12:138218098:TGAGGAACATTTCATTGAGGAAC:TGAGGAAC,NC_000006.12:138218098:TGAGGAACATTTCATTGAGGAAC:TGAGGAACATTTCATTGAGGAACATTTCATTGAGGAAC
- Gene:
- ARFGEF3 (Varview), PBOV1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,inframe_deletion,inframe_insertion,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGAGGAACATTTCATTGAGGAACATTTCATTGAGGAAC=0./0
(
ALFA)
TGAGGAACATTTCAT=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000006.12:g.138218107_138218121del, NC_000006.12:g.138218107_138218121dup, NC_000006.11:g.138539244_138539258del, NC_000006.11:g.138539244_138539258dup, NG_029816.1:g.5378_5392del, NG_029816.1:g.5378_5392dup, NM_021635.3:c.283_297del, NM_021635.3:c.283_297dup, NM_021635.2:c.283_297del, NM_021635.2:c.283_297dup, NP_067648.1:p.Met95_Ser99del, NP_067648.1:p.Met95_Ser99dup ...more
5.
rs1455493621 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 6:138218247
(GRCh38)
6:138539384
(GRCh37)
- Canonical SPDI:
- NC_000006.12:138218246:T:A
- Gene:
- ARFGEF3 (Varview), PBOV1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
...more- HGVS:
6.
rs1453909134 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:138218233
(GRCh38)
6:138539370
(GRCh37)
- Canonical SPDI:
- NC_000006.12:138218232:T:C
- Gene:
- ARFGEF3 (Varview), PBOV1 (Varview)
- Functional Consequence:
- intron_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
7.
rs1448622631 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 6:138218121
(GRCh38)
6:138539258
(GRCh37)
- Canonical SPDI:
- NC_000006.12:138218120:CC:C
- Gene:
- ARFGEF3 (Varview), PBOV1 (Varview)
- Functional Consequence:
- frameshift_variant,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0./0
(
ALFA)
-=0.000004/1
(GnomAD_exomes)
-=0.000008/2
(TOPMED)
-=0.000156/1
(1000Genomes)
...more- HGVS:
8.
rs1433025788 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 6:138218380
(GRCh38)
6:138539517
(GRCh37)
- Canonical SPDI:
- NC_000006.12:138218379:T:C,NC_000006.12:138218379:T:G
- Gene:
- ARFGEF3 (Varview), PBOV1 (Varview)
- Functional Consequence:
- intron_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
C=0.000007/1
(GnomAD_exomes)
...more- HGVS:
NC_000006.12:g.138218380T>C, NC_000006.12:g.138218380T>G, NC_000006.11:g.138539517T>C, NC_000006.11:g.138539517T>G, NG_029816.1:g.5111A>G, NG_029816.1:g.5111A>C, NM_021635.3:c.16A>G, NM_021635.3:c.16A>C, NM_021635.2:c.16A>G, NM_021635.2:c.16A>C, NP_067648.1:p.Arg6Gly ...more
9.
rs1429304219 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TAACTGCAAAGT
[Show Flanks]
- Chromosome:
- 6:138218053
(GRCh38)
6:138539191
(GRCh37)
- Canonical SPDI:
- NC_000006.12:138218053:AGTTAACTGCAAAGT:AGTTAACTGCAAAGTTAACTGCAAAGT
- Gene:
- ARFGEF3 (Varview), PBOV1 (Varview)
- Functional Consequence:
- inframe_insertion,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
- Validated:
- by frequency
- MAF:
AGTTAACTGCAA=0.000004/1
(GnomAD_exomes)
- HGVS:
10.
rs1427810103 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 6:138218378
(GRCh38)
6:138539515
(GRCh37)
- Canonical SPDI:
- NC_000006.12:138218377:C:G
- Gene:
- ARFGEF3 (Varview), PBOV1 (Varview)
- Functional Consequence:
- missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
- Validated:
- by frequency
- MAF:
G=0.000007/1
(GnomAD_exomes)
- HGVS:
11.
rs1404424228 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:138218304
(GRCh38)
6:138539441
(GRCh37)
- Canonical SPDI:
- NC_000006.12:138218303:T:C
- Gene:
- ARFGEF3 (Varview), PBOV1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000005/1
(GnomAD_exomes)
...more- HGVS:
12.
rs1393881462 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:138218246
(GRCh38)
6:138539383
(GRCh37)
- Canonical SPDI:
- NC_000006.12:138218245:G:A
- Gene:
- ARFGEF3 (Varview), PBOV1 (Varview)
- Functional Consequence:
- intron_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000111/1
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
- HGVS:
13.
rs1386325898 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 6:138218135
(GRCh38)
6:138539272
(GRCh37)
- Canonical SPDI:
- NC_000006.12:138218134:G:C
- Gene:
- ARFGEF3 (Varview), PBOV1 (Varview)
- Functional Consequence:
- missense_variant,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(GnomAD_exomes)
C=0.000008/2
(TOPMED)
...more- HGVS:
14.
rs1378748618 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 6:138218250
(GRCh38)
6:138539387
(GRCh37)
- Canonical SPDI:
- NC_000006.12:138218249:C:A
- Gene:
- ARFGEF3 (Varview), PBOV1 (Varview)
- Functional Consequence:
- coding_sequence_variant,intron_variant,missense_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
16.
rs1347971742 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 6:138218004
(GRCh38)
6:138539141
(GRCh37)
- Canonical SPDI:
- NC_000006.12:138218003:T:G
- Gene:
- ARFGEF3 (Varview), PBOV1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
18.
rs1331174134 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:138217990
(GRCh38)
6:138539127
(GRCh37)
- Canonical SPDI:
- NC_000006.12:138217989:A:G
- Gene:
- ARFGEF3 (Varview), PBOV1 (Varview)
- Functional Consequence:
- intron_variant,stop_lost,terminator_codon_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000142/2
(
ALFA)
G=0.000008/2
(GnomAD_exomes)
G=0.000014/2
(GnomAD)
G=0.000023/6
(TOPMED)
...more- HGVS:
19.
rs1316706885 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 6:138218143
(GRCh38)
6:138539280
(GRCh37)
- Canonical SPDI:
- NC_000006.12:138218142:G:T
- Gene:
- ARFGEF3 (Varview), PBOV1 (Varview)
- Functional Consequence:
- intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
20.
rs1311651738 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:138218039
(GRCh38)
6:138539176
(GRCh37)
- Canonical SPDI:
- NC_000006.12:138218038:C:T
- Gene:
- ARFGEF3 (Varview), PBOV1 (Varview)
- Functional Consequence:
- intron_variant,synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000015/2
(GnomAD)
...more- HGVS: