Varaico: Literature-Extracted Genetic Variants

Gene:KCNA2
Variant:p.P442S

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.P442S
c.1324C>T
Surrounding Variants
3 papers
NM_004974.4
p.S441A
c.1321T>G
3 papers
NM_004974.4
p.S440A
c.1318T>G
1 paper
NM_004974.4
p.K445fs
c.1333_1334fs
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.I438V
c.1312A>G
1 paper
NM_004974.4
p.K437N
c.1311G>T
1 paper
NM_004974.4
p.K437N
c.1311G>C
1 paper
NM_004974.4
p.S447I
c.1340G>T
1 paper
NM_004974.4
p.C435S
c.1304G>C
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