Varaico: Literature-Extracted Genetic Variants

Gene:KCNA1
Variant:p.V471F

KCNA1

409 papers

RefSeq Summary

This gene encodes a voltage-gated delayed potassium channel that is phylogenetically related to the Drosophila Shaker channel. The encoded protein has six putative transmembrane segments (S1-S6), and ...

Pfam Domains

BTB_2aa 39–130UCSCBTB/POZ domain
Ion_transaa 166–419UCSCIon transport protein

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily A member 1

HGNC Previous Symbol

AEMK

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000217.3
p.V471F
c.1411G>T
Surrounding Variants
1 paper
NM_000217.3
p.Q470*
c.1408C>T
2 papers
NM_000217.3
p.N472S
c.1415A>G
1 paper
NM_000217.3
p.R469K
c.1406G>A
1 paper
NM_000217.3
p.R474S
c.1422A>C
1 paper
NM_000217.3
p.H467R
c.1400A>G
1 paper
NM_000217.3
p.R474S
c.1422A>T
1 paper
NM_000217.3
p.A466D
c.1397C>A
1 paper
NM_000217.3
p.I465V
c.1393A>G
1 paper
NM_000217.3
p.N477S
c.1430A>G
1 paper
NM_000217.3
p.C478Y
c.1433G>A
1 paper
NM_000217.3
p.N463_S464insFs
c.1389_1390insT
2 papers
NM_000217.3
p.T480A
c.1438A>G
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