Varaico: Literature-Extracted Genetic Variants

Gene:KCNA1
Variant:p.G311D

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
12 papers
NM_000217.3
p.G311D
c.932G>A
Surrounding Variants
16 papers
NM_000217.3
p.G311S
c.931G>A
1 paper
NM_000217.3
p.G311C
c.931G>T
1 paper
NM_000217.3
p.L312I
c.934C>A
1 paper
NM_000217.3
p.K310N
c.930G>C
1 paper
NM_000217.3
p.K310N
c.930G>T
1 paper
NM_000217.3
p.K310R
c.929A>G
1 paper
NM_000217.3
p.K310E
c.928A>G
8 papers
NM_000217.3
p.S309T
c.925T>A
1 paper
NM_000217.3
p.H308Q
c.924C>A
1 paper
NM_000217.3
p.H308Q
c.924C>G
8 papers
NM_000217.3
p.I314T
c.941T>C
1 paper
NM_000217.3
p.H308D
c.922C>G
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