Varaico: Literature-Extracted Genetic Variants

Gene:KCNA1
Variant:p.R324K

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.R324K
c.971G>A
Surrounding Variants
16 papers
NM_000217.3
p.R324T
c.971G>C
1 paper
NM_000217.3
p.R324delFs
c.972delA
1 paper
NM_000217.3
p.E325K
c.973G>A
2 papers
NM_000217.3
p.E325Q
c.973G>C
1 paper
NM_000217.3
p.E325A
c.974A>C
1 paper
NM_000217.3
p.E325G
c.974A>G
35 papers
NM_000217.3
p.E325D
c.975G>C
35 papers
NM_000217.3
p.E325D
c.975G>T
1 paper
NM_000217.3
p.L326V
c.976C>G
1 paper
NM_000217.3
p.S322R
c.966T>A
1 paper
NM_000217.3
p.S322R
c.966T>G
1 paper
NM_000217.3
p.S322R
c.964A>C
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