Varaico: Literature-Extracted Genetic Variants

Gene:KCNA2
Variant:p.C244R

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.C244R
c.730T>C
Surrounding Variants
1 paper
NM_004974.4
p.C244Y
c.731G>A
1 paper
NM_004974.4
p.A243A
c.729C>A
1 paper
NM_004974.4
p.A243P
c.727G>C
1 paper
NM_004974.4
p.P245S
c.733C>T
1 paper
NM_004974.4
p.S246I
c.737G>T
1 paper
NM_004974.4
p.F241L
c.723C>G
3 papers
NM_004974.4
p.F241L
c.723C>A
1 paper
NM_004974.4
p.F241L
c.721T>C
1 paper
NM_004974.4
p.K247E
c.739A>G
1 paper
NM_004974.4
p.A248S
c.742G>T
1 paper
NM_004974.4
p.V239L
c.715G>T
1 paper
NM_004974.4
p.G249R
c.745G>C
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