Varaico: Literature-Extracted Genetic Variants

Gene:KCNE1
Variant:p.V21A

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.V21A
c.62T>C
Surrounding Variants
1 paper
NM_000219.6
p.V21G
c.62T>G
1 paper
NM_000219.6
p.V21D
c.62T>A
1 paper
NM_000219.6
p.V21V
c.63T>G
1 paper
NM_000219.6
p.V21V
c.63T>C
1 paper
NM_000219.6
p.V21V
c.63T>A
1 paper
NM_000219.6
p.V21F
c.61G>T
2 papers
NM_000219.6
p.V21L
c.61G>C
1 paper
NM_000219.6
p.V21I
c.61G>A
2 papers
NM_000219.6
p.Q22*
c.64C>T
1 paper
NM_000219.6
p.Q22E
c.64C>G
1 paper
NM_000219.6
p.Q22K
c.64C>A
1 paper
NM_000219.6
p.T20T
c.60A>T
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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."