Varaico: Literature-Extracted Genetic Variants

Gene:KCNA1

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
1–12 of 567 variants
64 papers
NM_000217.3
p.V408A
c.1223T>C
35 papers
NM_000217.3
p.F184C
c.551T>G
35 papers
NM_000217.3
p.E325D
c.975G>C
35 papers
NM_000217.3
p.E325D
c.975G>T
31 papers
NM_000217.3
p.T226R
c.677C>G
29 papers
NM_000217.3
p.A242P
c.724G>C
27 papers
NM_000217.3
p.N255D
c.763A>G
27 papers
NM_000217.3
p.V404I
c.1210G>A
24 papers
NM_000217.3
p.V174F
c.520G>T
23 papers
NM_000217.3
p.R239S
c.715C>A
22 papers
NM_000217.3
p.T226M
c.677C>T
22 papers
NM_000217.3
p.P244H
c.731C>A
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."