Varaico: Literature-Extracted Genetic Variants

Gene:KCNA2
Variant:p.E157K

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
7 papers
NM_004974.4
p.E157K
c.469G>A
Surrounding Variants
1 paper
NM_004974.4
p.P156S
c.466C>T
1 paper
NM_004974.4
p.E154Q
c.460G>C
1 paper
NM_004974.4
p.E142_F153ins4
c.426_458dup33
1 paper
NM_004974.4
p.P161T
c.481C>A
1 paper
NM_004974.4
p.P161P
c.483T>A
1 paper
NM_004974.4
p.L151H
c.452T>A
1 paper
NM_004974.4
p.W150C
c.450G>T
1 paper
NM_004974.4
p.W150C
c.450G>C
1 paper
NM_004974.4
p.R163K
c.488G>A
1 paper
NM_004974.4
p.W150R
c.448T>C
1 paper
NM_004974.4
p.W150R
c.448T>A
1 paper
NM_004974.4
p.I164V
c.490A>G
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