Varaico: Literature-Extracted Genetic Variants

Gene:KCNA2
Variant:p.H310Y

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
4 papers
NM_004974.4
p.H310Y
c.928C>T
Surrounding Variants
1 paper
NM_004974.4
p.H310D
c.928C>G
5 papers
NM_004974.4
p.H310R
c.929A>G
1 paper
NM_004974.4
p.H310P
c.929A>C
1 paper
NM_004974.4
p.S311S
c.933C>A
1 paper
NM_004974.4
p.S308T
c.922T>A
1 paper
NM_004974.4
p.L307W
c.920T>G
1 paper
NM_004974.4
p.L307V
c.919T>G
1 paper
NM_004974.4
p.G313C
c.937G>T
1 paper
NM_004974.4
p.G313D
c.938G>A
1 paper
NM_004974.4
p.F305S
c.914T>C
1 paper
NM_004974.4
p.Q315H
c.945G>T
1 paper
NM_004974.4
p.Q315H
c.945G>C
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