Varaico: Literature-Extracted Genetic Variants

Gene:KCNA1
Variant:p.G123D

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.G123D
c.368G>A
Surrounding Variants
1 paper
NM_000217.3
p.G123S
c.367G>A
1 paper
NM_000217.3
p.E124K
c.370G>A
1 paper
NM_000217.3
p.E124V
c.371A>T
1 paper
NM_000217.3
p.L122*
c.365T>A
1 paper
NM_000217.3
p.E121V
c.362A>T
1 paper
NM_000217.3
p.E121K
c.361G>A
1 paper
NM_000217.3
p.A126P
c.376G>C
3 papers
NM_000217.3
p.Y120S
c.359A>C
1 paper
NM_000217.3
p.Y120F
c.359A>T
1 paper
NM_000217.3
p.F119L
c.357T>A
1 paper
NM_000217.3
p.F119F
c.357T>C
1 paper
NM_000217.3
p.F119L
c.357T>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."