Varaico: Literature-Extracted Genetic Variants

Gene:KCNE1
Variant:p.K70*

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.K70*
c.208A>T
Surrounding Variants
3 papers
NM_000219.6
p.K70E
c.208A>G
6 papers
NM_000219.6
p.K70Q
c.208A>C
1 paper
NM_000219.6
p.K69N
c.207G>C
11 papers
NM_000219.6
p.K70M
c.209A>T
3 papers
NM_000219.6
p.K70R
c.209A>G
1 paper
NM_000219.6
p.K70T
c.209A>C
20 papers
NM_000219.6
p.K70N
c.210G>T
19 papers
NM_000219.6
p.K70N
c.210G>C
1 paper
NM_000219.6
p.K69M
c.206A>T
5 papers
NM_000219.6
p.K69R
c.206A>G
1 paper
NM_000219.6
p.K69T
c.206A>C
1 paper
NM_000219.6
p.L71L
c.211C>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."