Varaico: Literature-Extracted Genetic Variants

Gene:KCNE1
Variant:p.A31T

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
3 papers
NM_000219.6
p.A31T
c.91G>A
Surrounding Variants
1 paper
NM_000219.6
p.A31S
c.91G>T
2 papers
NM_000219.6
p.A31P
c.91G>C
1 paper
NM_000219.6
p.L30L
c.90G>T
1 paper
NM_000219.6
p.L30L
c.90G>C
1 paper
NM_000219.6
p.L30L
c.90G>A
2 papers
NM_000219.6
p.A31V
c.92C>T
1 paper
NM_000219.6
p.A31G
c.92C>G
1 paper
NM_000219.6
p.A31D
c.92C>A
1 paper
NM_000219.6
p.L30R
c.89T>G
1 paper
NM_000219.6
p.L30P
c.89T>C
2 papers
NM_000219.6
p.L30Q
c.89T>A
1 paper
NM_000219.6
p.A31A
c.93C>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."