Varaico: Literature-Extracted Genetic Variants

Gene:KCNA1
Variant:p.D74Y

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.D74Y
c.220G>T
Surrounding Variants
1 paper
NM_000217.3
p.D74N
c.220G>A
1 paper
NM_000217.3
p.F73V
c.217T>G
1 paper
NM_000217.3
p.P75H
c.224C>A
1 paper
NM_000217.3
p.L76V
c.226C>G
1 paper
NM_000217.3
p.Y72H
c.214T>C
1 paper
NM_000217.3
p.R71H
c.212G>A
1 paper
NM_000217.3
p.M70V
c.208A>G
1 paper
NM_000217.3
p.R69P
c.206G>C
1 paper
NM_000217.3
p.E79*
c.235G>T
2 papers
NM_000217.3
p.E79E
c.237G>A
1 paper
NM_000217.3
p.P66P
c.198T>C
1 paper
NM_000217.3
p.F81L
c.243C>G
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