Varaico: Literature-Extracted Genetic Variants

Gene:KCNA2
Variant:p.T452S

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
2 papers
NM_004974.4
p.T452S
c.1354A>T
Surrounding Variants
2 papers
NM_004974.4
p.T452A
c.1354A>G
2 papers
NM_004974.4
p.T452S
c.1355C>G
2 papers
NM_004974.4
p.S451P
c.1351T>C
1 paper
NM_004974.4
p.S447I
c.1340G>T
2 papers
NM_004974.4
p.Y458H
c.1372T>C
1 paper
NM_004974.4
p.K445N
c.1335G>T
1 paper
NM_004974.4
p.K445fs
c.1333_1334fs
1 paper
NM_004974.4
p.K445N
c.1335G>C
2 papers
NM_004974.4
p.K445delFs
c.1334delT
1 paper
NM_004974.4
p.Y458F
c.1373A>T
1 paper
NM_004974.4
p.K445fs
c.1333_1334fs
2 papers
NM_004974.4
p.M459V
c.1375A>G
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