Varaico: Literature-Extracted Genetic Variants

Gene:KCNA1
Variant:p.S342C

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.S342C
c.1024A>T
Surrounding Variants
1 paper
NM_000217.3
p.S342T
c.1025G>C
16 papers
NM_000217.3
p.S342I
c.1025G>T
1 paper
NM_000217.3
p.V344E
c.1031T>A
1 paper
NM_000217.3
p.Y345C
c.1034A>G
1 paper
NM_000217.3
p.F346I
c.1036T>A
1 paper
NM_000217.3
p.V337V
c.1011C>T
1 paper
NM_000217.3
p.V337I
c.1009G>A
1 paper
NM_000217.3
p.G336_V337insFs
c.1008_1009insT
3 papers
NM_000217.3
p.G336E
c.1007G>A
1 paper
NM_000217.3
p.G336W
c.1006G>T
1 paper
NM_000217.3
p.I335N
c.1004T>A
1 paper
NM_000217.3
p.I335S
c.1004T>G
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