Varaico: Literature-Extracted Genetic Variants

Gene:KCNE1
Variant:p.R36C

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
6 papers
NM_000219.6
p.R36C
c.106C>T
Surrounding Variants
1 paper
NM_000219.6
p.R36G
c.106C>G
2 papers
NM_000219.6
p.R36S
c.106C>A
1 paper
NM_000219.6
p.R36L
c.107G>T
1 paper
NM_000219.6
p.R36P
c.107G>C
11 papers
NM_000219.6
p.R36H
c.107G>A
1 paper
NM_000219.6
p.P35P
c.105C>T
1 paper
NM_000219.6
p.P35P
c.105C>G
1 paper
NM_000219.6
p.P35P
c.105C>A
1 paper
NM_000219.6
p.R36R
c.108C>T
1 paper
NM_000219.6
p.P35L
c.104C>T
1 paper
NM_000219.6
p.R36R
c.108C>G
1 paper
NM_000219.6
p.P35R
c.104C>G
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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."