Varaico: Literature-Extracted Genetic Variants

Gene:KCNA1
Variant:p.I290M

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.I290M
c.870C>G
Surrounding Variants
1 paper
NM_000217.3
p.L291I
c.871C>A
1 paper
NM_000217.3
p.L291H
c.872T>A
1 paper
NM_000217.3
p.L291P
c.872T>C
2 papers
NM_000217.3
p.V293I
c.877G>A
1 paper
NM_000217.3
p.L288Q
c.863T>A
3 papers
NM_000217.3
p.R295C
c.883C>T
1 paper
NM_000217.3
p.T286A
c.856A>G
1 paper
NM_000217.3
p.R295H
c.884G>A
1 paper
NM_000217.3
p.L296S
c.887T>C
5 papers
NM_000217.3
p.L296F
c.888G>C
6 papers
NM_000217.3
p.L296F
c.888G>T
1 paper
NM_000217.3
p.Q284*
c.850C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."