Varaico: Literature-Extracted Genetic Variants

Gene:KCNA2
Variant:p.D220E

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
Selected Variant
1 paper
NM_004974.4
p.D220E
c.660C>A
Surrounding Variants
1 paper
NM_004974.4
p.D220E
c.660C>G
2 papers
NM_004974.4
p.D220A
c.659A>C
1 paper
NM_004974.4
p.T219K
c.656C>A
2 papers
NM_004974.4
p.F222C
c.665T>G
1 paper
NM_004974.4
p.S217Y
c.650C>A
1 paper
NM_004974.4
p.V225I
c.673G>A
1 paper
NM_004974.4
p.T216I
c.647C>T
1 paper
NM_004974.4
p.T216A
c.646A>G
3 papers
NM_004974.4
p.E226K
c.676G>A
1 paper
NM_004974.4
p.E226D
c.678G>T
1 paper
NM_004974.4
p.E226D
c.678G>C
2 papers
NM_004974.4
p.T227I
c.680C>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."