Varaico: Literature-Extracted Genetic Variants

Gene:KCNA1
Variant:p.V381M

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.V381M
c.1141G>A
Surrounding Variants
2 papers
NM_000217.3
p.Y379H
c.1135T>C
1 paper
NM_000217.3
p.M378V
c.1132A>G
1 paper
NM_000217.3
p.G384R
c.1150G>A
1 paper
NM_000217.3
p.G384R
c.1150G>C
1 paper
NM_000217.3
p.G384G
c.1152A>C
1 paper
NM_000217.3
p.K386E
c.1156A>G
6 papers
NM_000217.3
p.G376S
c.1126G>A
1 paper
NM_000217.3
p.G376R
c.1126G>C
1 paper
NM_000217.3
p.G376C
c.1126G>T
1 paper
NM_000217.3
p.G374A
c.1121G>C
1 paper
NM_000217.3
p.G389D
c.1166G>A
1 paper
NM_000217.3
p.T371N
c.1112C>A
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