Varaico: Literature-Extracted Genetic Variants

Gene:KCNE5
Variant:p.A117V

KCNE5

75 papers

RefSeq Summary

This gene encodes a member of a family of single pass transmembrane domain proteins that function as ancillary subunits to voltage-gated potassium channels. Members of this family affect diverse proce...

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily E regulatory subunit 5

HGNC Previous Symbol

KCNE1L

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012282.4
p.A117V
c.350C>T
Surrounding Variants
1 paper
NM_012282.4
p.Q120*
c.358C>T
1 paper
NM_012282.4
p.R125H
c.374G>A
1 paper
NM_012282.4
p.Q126H
c.378G>T
1 paper
NM_012282.4
p.Q126H
c.378G>C
10 papers
NM_012282.4
p.E93*
c.277G>T
1 paper
NM_012282.4
p.V142L
c.424G>C
9 papers
NM_012282.4
p.D92E
c.276C>G
9 papers
NM_012282.4
p.D92E
c.276C>A
1 paper
NM_012282.4
p.K91N
c.273G>T
1 paper
NM_012282.4
p.K91N
c.273G>C
1 paper
NM_012282.4
p.K91E
c.271A>G
1 paper
NM_012282.4
p.R85L
c.254G>T
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