Varaico: Literature-Extracted Genetic Variants

Gene:KCNA2
Variant:p.R99K

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.R99K
c.296G>A
Surrounding Variants
1 paper
NM_004974.4
p.R99G
c.295A>G
3 papers
NM_004974.4
p.R100*
c.298C>T
1 paper
NM_004974.4
p.R100R
c.298C>A
2 papers
NM_004974.4
p.R100Q
c.299G>A
2 papers
NM_004974.4
p.R97R
c.291A>C
1 paper
NM_004974.4
p.R97Q
c.290G>A
1 paper
NM_004974.4
p.R97*
c.289C>T
1 paper
NM_004974.4
p.V102L
c.304G>C
1 paper
NM_004974.4
p.V102A
c.305T>C
1 paper
NM_004974.4
p.G96D
c.287G>A
1 paper
NM_004974.4
p.G95G
c.285G>C
1 paper
NM_004974.4
p.N103S
c.308A>G
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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."