Varaico: Literature-Extracted Genetic Variants

Gene:KCNA1
Variant:p.H429Q

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.H429Q
c.1287C>G
Surrounding Variants
1 paper
NM_000217.3
p.H429Q
c.1287C>A
1 paper
NM_000217.3
p.H429H
c.1287C>T
1 paper
NM_000217.3
p.V430I
c.1288G>A
1 paper
NM_000217.3
p.V430L
c.1288G>C
1 paper
NM_000217.3
p.V430F
c.1288G>T
1 paper
NM_000217.3
p.Q426R
c.1277A>G
1 paper
NM_000217.3
p.P433S
c.1297C>T
1 paper
NM_000217.3
p.P433R
c.1298C>G
1 paper
NM_000217.3
p.Q426*
c.1276C>T
2 papers
NM_000217.3
p.E423A
c.1268A>C
1 paper
NM_000217.3
p.A436P
c.1306G>C
1 paper
NM_000217.3
p.E422D
c.1266A>C
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