Varaico: Literature-Extracted Genetic Variants

Gene:KCNE1
Variant:p.K90E

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.K90E
c.268A>G
Surrounding Variants
1 paper
NM_000219.6
p.K90Q
c.268A>C
1 paper
NM_000219.6
p.E89D
c.267G>T
1 paper
NM_000219.6
p.E89D
c.267G>C
1 paper
NM_000219.6
p.K90M
c.269A>T
1 paper
NM_000219.6
p.K90R
c.269A>G
1 paper
NM_000219.6
p.K90T
c.269A>C
1 paper
NM_000219.6
p.K90N
c.270G>T
2 papers
NM_000219.6
p.K90N
c.270G>C
1 paper
NM_000219.6
p.E89V
c.266A>T
2 papers
NM_000219.6
p.E89G
c.266A>G
1 paper
NM_000219.6
p.D91Y
c.271G>T
1 paper
NM_000219.6
p.D91H
c.271G>C
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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."