Varaico: Literature-Extracted Genetic Variants

Gene:KCNA2
Variant:p.L48fs

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.L48fs
c.142_143fs
Surrounding Variants
1 paper
NM_004974.4
p.L48R
c.143T>G
1 paper
NM_004974.4
p.Q47H
c.141G>T
1 paper
NM_004974.4
p.Q47H
c.141G>C
1 paper
NM_004974.4
p.Q47P
c.140A>C
1 paper
NM_004974.4
p.T46T
c.138C>A
1 paper
NM_004974.4
p.T50A
c.148A>G
1 paper
NM_004974.4
p.T46A
c.136A>G
1 paper
NM_004974.4
p.E45A
c.134A>C
1 paper
NM_004974.4
p.L51V
c.151T>G
1 paper
NM_004974.4
p.L51L
c.151T>C
1 paper
NM_004974.4
p.L51I
c.151T>A
1 paper
NM_004974.4
p.E45Q
c.133G>C
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