Varaico: Literature-Extracted Genetic Variants

Gene:KCNA1
Variant:p.V408A

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
64 papers
NM_000217.3
p.V408A
c.1223T>C
Surrounding Variants
4 papers
NM_000217.3
p.V408M
c.1222G>A
16 papers
NM_000217.3
p.V408L
c.1222G>C
16 papers
NM_000217.3
p.V408L
c.1222G>T
13 papers
NM_000217.3
p.I407M
c.1221T>G
1 paper
NM_000217.3
p.N410T
c.1229A>C
1 paper
NM_000217.3
p.V406D
c.1217T>A
1 paper
NM_000217.3
p.P405H
c.1214C>A
20 papers
NM_000217.3
p.P405L
c.1214C>T
2 papers
NM_000217.3
p.P405A
c.1213C>G
11 papers
NM_000217.3
p.P405S
c.1213C>T
1 paper
NM_000217.3
p.N412I
c.1235A>T
1 paper
NM_000217.3
p.V404A
c.1211T>C
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