Potassium channel, subfamily V, member 2 [Homo sapiens]

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KCNV2-associated retinopathy: genotype-phenotype correlations - KCNV2 study group report 3. [Br J Ophthalmol. 2024]
KCNV2-associated retinopathy: genotype-phenotype correlations - KCNV2 study group report 3.
de Guimaraes TAC, Georgiou M, Robson AG, Fujinami K, Vincent A, Nasser F, Khateb S, Mahroo OA, Pontikos N, Vargas ME, et al. Br J Ophthalmol. 2024 Jul 23; 108(8):1137-1144. Epub 2024 Jul 23.
Initial diagnoses of patients found to be homozygous for a KCNV2 founder mutation on the Arabian Peninsula (c.427G>T; p.Glu143*). [Ophthalmic Genet. 2023]
Initial diagnoses of patients found to be homozygous for a KCNV2 founder mutation on the Arabian Peninsula (c.427G>T; p.Glu143*).
Khan Z, Khan AO. Ophthalmic Genet. 2023 Oct; 44(5):512-514. Epub 2022 Oct 24.
A novel KCNV2 mutation in a patient taking hydroxychloroquine associated with cone dystrophy with supernormal rod response. [Ophthalmic Genet. 2021]
A novel KCNV2 mutation in a patient taking hydroxychloroquine associated with cone dystrophy with supernormal rod response.
Liu PK, Ryu J, Yeh LK, Chen KJ, Tsang SH, Liu L, Wang NK. Ophthalmic Genet. 2021 Aug; 42(4):458-463. Epub 2021 May 7.

RefSeq genomic sequence
See the genomic reference sequence for the KCNV2 gene (NG_012181.1).
RefSeq protein
See the reference protein sequence for potassium voltage-gated channel subfamily V member 2 (NP_598004.1).

Nucleotide
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Transcript/Protein Information [PANTHER Classification System]
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reagents [ExactAntigen/Labome]
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Protein