Varaico: Literature-Extracted Genetic Variants

Gene:KCNA1
Variant:p.L46P

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.L46P
c.137T>C
Surrounding Variants
1 paper
NM_000217.3
p.L46M
c.136C>A
1 paper
NM_000217.3
p.R47S
c.139C>A
1 paper
NM_000217.3
p.R47C
c.139C>T
2 papers
NM_000217.3
p.G45G
c.135G>A
1 paper
NM_000217.3
p.G45G
c.135G>C
2 papers
NM_000217.3
p.G45_L46insFs
c.135_136insC
1 paper
NM_000217.3
p.R47P
c.140G>C
1 paper
NM_000217.3
p.S44A
c.130T>G
2 papers
NM_000217.3
p.E49Q
c.145G>C
1 paper
NM_000217.3
p.T50M
c.149C>T
1 paper
NM_000217.3
p.Q51L
c.152A>T
1 paper
NM_000217.3
p.I41T
c.122T>C
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