Varaico: Literature-Extracted Genetic Variants

Gene:KCNA2

KCNA2

401 papers

RefSeq Summary

Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, ...

Pfam Domains

BTB_2aa 35–126UCSCBTB/POZ domain
Ion_transaa 162–421UCSCIon transport protein

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily A member 2

HGNC Alias Symbols

Kv1.2; HK4

Papers
RefSeq ID
Protein change
DNA change
1–12 of 568 variants
51 papers
NM_004974.4
p.R297Q
c.890G>A
43 papers
NM_004974.4
p.P405L
c.1214C>T
27 papers
NM_004974.4
p.L298F
c.894G>T
25 papers
NM_004974.4
p.I263T
c.788T>C
25 papers
NM_004974.4
p.L298F
c.894G>C
23 papers
NM_004974.4
p.T374A
c.1120A>G
19 papers
NM_004974.4
p.V408A
c.1223T>C
16 papers
NM_004974.4
p.R294H
c.881G>A
15 papers
NM_004974.4
p.M125K
c.374T>A
11 papers
NM_004974.4
p.L290R
c.869T>G
10 papers
NM_004974.4
p.R65*
c.193C>T
10 papers
NM_004974.4
p.R297W
c.889C>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."