Varaico: Literature-Extracted Genetic Variants

Gene:KCNA2
Variant:p.E191D

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.E191D
c.573G>T
Surrounding Variants
1 paper
NM_004974.4
p.E191D
c.573G>C
1 paper
NM_004974.4
p.N192Y
c.574A>T
1 paper
NM_004974.4
p.D190V
c.569A>T
1 paper
NM_004974.4
p.E193G
c.578A>G
1 paper
NM_004974.4
p.R189L
c.566G>T
1 paper
NM_004974.4
p.R189Q
c.566G>A
3 papers
NM_004974.4
p.R189W
c.565C>T
1 paper
NM_004974.4
p.L182_D194del13
c.544_581del39
1 paper
NM_004974.4
p.M195I
c.585G>T
1 paper
NM_004974.4
p.M195I
c.585G>C
1 paper
NM_004974.4
p.M195I
c.585G>A
1 paper
NM_004974.4
p.H196D
c.586C>G
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