Varaico: Literature-Extracted Genetic Variants

Gene:KCNA1
Variant:p.P109S

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.P109S
c.325C>T
Surrounding Variants
1 paper
NM_000217.3
p.V108L
c.322G>C
1 paper
NM_000217.3
p.V108L
c.322G>T
1 paper
NM_000217.3
p.L110P
c.329T>C
1 paper
NM_000217.3
p.V106A
c.317T>C
1 paper
NM_000217.3
p.M112L
c.334A>T
2 papers
NM_000217.3
p.V106I
c.316G>A
1 paper
NM_000217.3
p.P105S
c.313C>T
1 paper
NM_000217.3
p.F113I
c.337T>A
1 paper
NM_000217.3
p.R104S
c.312G>C
1 paper
NM_000217.3
p.R104S
c.312G>T
1 paper
NM_000217.3
p.R104T
c.311G>C
1 paper
NM_000217.3
p.S114T
c.340T>A
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