Varaico: Literature-Extracted Genetic Variants

Gene:KCNE1
Variant:p.A114V

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.A114V
c.341C>T
Surrounding Variants
1 paper
NM_000219.6
p.A114G
c.341C>G
1 paper
NM_000219.6
p.A114D
c.341C>A
1 paper
NM_000219.6
p.A114S
c.340G>T
1 paper
NM_000219.6
p.A114P
c.340G>C
2 papers
NM_000219.6
p.A114T
c.340G>A
1 paper
NM_000219.6
p.L113L
c.339G>T
1 paper
NM_000219.6
p.L113L
c.339G>C
1 paper
NM_000219.6
p.L113L
c.339G>A
1 paper
NM_000219.6
p.L113R
c.338T>G
1 paper
NM_000219.6
p.L113P
c.338T>C
1 paper
NM_000219.6
p.L113Q
c.338T>A
1 paper
NM_000219.6
p.L113L
c.337C>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."