Varaico: Literature-Extracted Genetic Variants

Gene:KCNE5

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
1–12 of 42 variants
14 papers
NM_012282.4
p.L65F
c.193C>T
13 papers
NM_012282.4
p.P33S
c.97C>T
13 papers
NM_012282.4
p.Y81H
c.241T>C
10 papers
NM_012282.4
p.E93*
c.277G>T
9 papers
NM_012282.4
p.D92E
c.276C>G
9 papers
NM_012282.4
p.D92E
c.276C>A
4 papers
NM_012282.4
p.R83H
c.248G>A
3 papers
NM_012282.4
p.R85H
c.254G>A
2 papers
NM_012282.4
p.L29F
c.87G>T
2 papers
NM_012282.4
p.L29F
c.87G>C
2 papers
NM_012282.4
p.R34C
c.100C>T
2 papers
NM_012282.4
p.R34H
c.101G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."