Varaico: Literature-Extracted Genetic Variants

Gene:KCNA2
Variant:p.R65G

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.R65G
c.193C>G
Surrounding Variants
10 papers
NM_004974.4
p.R65*
c.193C>T
1 paper
NM_004974.4
p.R65P
c.194G>C
1 paper
NM_004974.4
p.R65Q
c.194G>A
1 paper
NM_004974.4
p.D61_R65delFs
c.182_194del13
1 paper
NM_004974.4
p.M66delFs
c.196delT
1 paper
NM_004974.4
p.K63N
c.189G>T
1 paper
NM_004974.4
p.K63N
c.189G>C
1 paper
NM_004974.4
p.K63R
c.188A>G
1 paper
NM_004974.4
p.D61G
c.182A>G
1 paper
NM_004974.4
p.D61N
c.181G>A
1 paper
NM_004974.4
p.G60W
c.178G>T
3 papers
NM_004974.4
p.D70V
c.209A>T
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