Varaico: Literature-Extracted Genetic Variants

Gene:KCNE1
Variant:p.E72G

KCNE1

716 papers

RefSeq Summary

The product of this gene belongs to the potassium channel KCNE family. Potassium ion channels are essential to many cellular functions and show a high degree of diversity, varying in their electrophys...

Pfam Domains

ISK_Channelaa 1–126UCSCSlow voltage-gated potassium channel

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily E regulatory subunit 1

HGNC Alias Symbols

IsK; JLNS2; LQT5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000219.6
p.E72G
c.215A>G
Surrounding Variants
1 paper
NM_000219.6
p.E72V
c.215A>T
2 papers
NM_000219.6
p.E72A
c.215A>C
3 papers
NM_000219.6
p.E72D
c.216G>T
3 papers
NM_000219.6
p.E72D
c.216G>C
1 paper
NM_000219.6
p.E72Q
c.214G>C
2 papers
NM_000219.6
p.E72K
c.214G>A
1 paper
NM_000219.6
p.L71L
c.213G>T
1 paper
NM_000219.6
p.L71L
c.213G>C
1 paper
NM_000219.6
p.L71L
c.213G>A
3 papers
NM_000219.6
p.H73Y
c.217C>T
2 papers
NM_000219.6
p.H73D
c.217C>G
2 papers
NM_000219.6
p.H73N
c.217C>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."