Varaico: Literature-Extracted Genetic Variants

Gene:KCNA2
Variant:p.H18R

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
3 papers
NM_004974.4
p.H18R
c.53A>G
Surrounding Variants
1 paper
NM_004974.4
p.G17G
c.51G>T
1 paper
NM_004974.4
p.G17E
c.50G>A
1 paper
NM_004974.4
p.P16R
c.47C>G
1 paper
NM_004974.4
p.P16S
c.46C>T
1 paper
NM_004974.4
p.L15R
c.44T>G
1 paper
NM_004974.4
p.L15V
c.43C>G
1 paper
NM_004974.4
p.A14A
c.42C>G
2 papers
NM_004974.4
p.A14P
c.40G>C
2 papers
NM_004974.4
p.Y23C
c.68A>G
1 paper
NM_004974.4
p.A12V
c.35C>T
2 papers
NM_004974.4
p.D24A
c.71A>C
2 papers
NM_004974.4
p.E11K
c.31G>A
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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."