ClinVar

NM_002576.5(PAK1):c.1286A>G (p.Tyr429Cys)

Gene:

PAK1:p21 (RAC1) activated kinase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.5

Genomic location:

• Chr11: 77336213 (on Assembly GRCh38)
• Chr11: 77047258 (on Assembly GRCh37)

Preferred name:

NM_002576.5(PAK1):c.1286A>G (p.Tyr429Cys)

HGVS:

• NC_000011.10:g.77336213T>C
• NG_029900.2:g.142851A>G
• NM_001128620.2:c.1286A>G
• NM_001376268.1:c.1286A>G
• NM_001376269.1:c.1286A>G
• NM_001376270.1:c.1286A>G
• NM_001376271.1:c.1286A>G
• NM_001376272.1:c.1307A>G
• NM_001376273.1:c.1286A>G
• NM_001376274.1:c.1286A>G
• NM_001376275.1:c.1286A>G
• NM_001376276.1:c.1286A>G
• NM_001376277.1:c.1286A>G
• NM_001376278.1:c.1286A>G
• NM_001376279.1:c.1286A>G
• NM_001376280.1:c.1286A>G
• NM_001376281.1:c.1286A>G
• NM_001376282.1:c.1286A>G
• NM_001376283.1:c.1286A>G
• NM_001376284.1:c.1286A>G
• NM_001376285.1:c.1286A>G
• NM_001376286.1:c.1286A>G
• NM_001376287.1:c.1286A>G
• NM_001376288.1:c.1286A>G
• NM_001376289.1:c.1286A>G
• NM_001376290.1:c.1163A>G
• NM_001376291.1:c.1163A>G
• NM_001376292.1:c.1286A>G
• NM_001376293.1:c.1286A>G
• NM_001376294.1:c.1277A>G
• NM_001376295.1:c.1109A>G
• NM_001376301.1:c.1037A>G
• NM_001376302.1:c.992A>G
• NM_001376303.1:c.998A>G
• NM_001376304.1:c.992A>G
• NM_001376305.1:c.992A>G
• NM_002576.5:c.1286A>GMANE SELECT
• NP_001122092.1:p.Tyr429Cys
• NP_001122092.1:p.Tyr429Cys
• NP_001363197.1:p.Tyr429Cys
• NP_001363198.1:p.Tyr429Cys
• NP_001363199.1:p.Tyr429Cys
• NP_001363200.1:p.Tyr429Cys
• NP_001363201.1:p.Tyr436Cys
• NP_001363202.1:p.Tyr429Cys
• NP_001363203.1:p.Tyr429Cys
• NP_001363204.1:p.Tyr429Cys
• NP_001363205.1:p.Tyr429Cys
• NP_001363206.1:p.Tyr429Cys
• NP_001363207.1:p.Tyr429Cys
• NP_001363208.1:p.Tyr429Cys
• NP_001363209.1:p.Tyr429Cys
• NP_001363210.1:p.Tyr429Cys
• NP_001363211.1:p.Tyr429Cys
• NP_001363212.1:p.Tyr429Cys
• NP_001363213.1:p.Tyr429Cys
• NP_001363214.1:p.Tyr429Cys
• NP_001363215.1:p.Tyr429Cys
• NP_001363216.1:p.Tyr429Cys
• NP_001363217.1:p.Tyr429Cys
• NP_001363218.1:p.Tyr429Cys
• NP_001363219.1:p.Tyr388Cys
• NP_001363220.1:p.Tyr388Cys
• NP_001363221.1:p.Tyr429Cys
• NP_001363222.1:p.Tyr429Cys
• NP_001363223.1:p.Tyr426Cys
• NP_001363224.1:p.Tyr370Cys
• NP_001363230.1:p.Tyr346Cys
• NP_001363231.1:p.Tyr331Cys
• NP_001363232.1:p.Tyr333Cys
• NP_001363233.1:p.Tyr331Cys
• NP_001363234.1:p.Tyr331Cys
• NP_002567.3:p.Tyr429Cys
• NP_002567.3:p.Tyr429Cys
• NC_000011.9:g.77047258T>C
• NM_001128620.1:c.1286A>G
• NM_002576.4:c.1286A>G
• NR_164797.1:n.1502A>G
• NR_164798.1:n.1505A>G

This HGVS expression did not pass validation

Protein change:

Y331C; TYR429CYS

Links:

OMIM: 602590.0002; dbSNP: rs1565583382

NCBI 1000 Genomes Browser:

rs1565583382

Molecular consequence:

• NM_001128620.2:c.1286A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001376268.1:c.1286A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001376269.1:c.1286A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001376270.1:c.1286A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001376271.1:c.1286A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001376272.1:c.1307A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001376273.1:c.1286A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001376274.1:c.1286A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001376275.1:c.1286A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001376276.1:c.1286A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001376277.1:c.1286A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001376278.1:c.1286A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001376279.1:c.1286A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001376280.1:c.1286A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001376281.1:c.1286A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001376282.1:c.1286A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001376283.1:c.1286A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001376284.1:c.1286A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001376285.1:c.1286A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001376286.1:c.1286A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001376287.1:c.1286A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001376288.1:c.1286A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001376289.1:c.1286A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001376290.1:c.1163A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001376291.1:c.1163A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001376292.1:c.1286A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001376293.1:c.1286A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001376294.1:c.1277A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001376295.1:c.1109A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001376301.1:c.1037A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001376302.1:c.992A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001376303.1:c.998A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001376304.1:c.992A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001376305.1:c.992A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_002576.5:c.1286A>G - missense variant - [Sequence Ontology: SO:0001583]
• NR_164797.1:n.1502A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_164798.1:n.1505A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]