Varaico: Literature-Extracted Genetic Variants

Gene:KCNA1
Variant:p.A12V

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.A12V
c.35C>T
Surrounding Variants
1 paper
NM_000217.3
p.A12P
c.34G>C
1 paper
NM_000217.3
p.S13*
c.38C>A
1 paper
NM_000217.3
p.S13L
c.38C>T
1 paper
NM_000217.3
p.S13S
c.39G>A
1 paper
NM_000217.3
p.E11*
c.31G>T
1 paper
NM_000217.3
p.D10E
c.30C>A
1 paper
NM_000217.3
p.D10E
c.30C>G
1 paper
NM_000217.3
p.A14S
c.40G>T
2 papers
NM_000217.3
p.A14A
c.42C>G
1 paper
NM_000217.3
p.A15T
c.43G>A
2 papers
NM_000217.3
p.A15S
c.43G>T
1 paper
NM_000217.3
p.A15V
c.44C>T
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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."