Varaico: Literature-Extracted Genetic Variants

Gene:KCNE1
Variant:p.S38G

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
106 papers
NM_000219.6
p.S38G
c.112A>G
Surrounding Variants
2 papers
NM_000219.6
p.S38C
c.112A>T
1 paper
NM_000219.6
p.S38R
c.112A>C
1 paper
NM_000219.6
p.S38I
c.113G>T
1 paper
NM_000219.6
p.S38T
c.113G>C
2 papers
NM_000219.6
p.S38N
c.113G>A
1 paper
NM_000219.6
p.S37R
c.111C>G
1 paper
NM_000219.6
p.S37R
c.111C>A
1 paper
NM_000219.6
p.S38R
c.114T>G
1 paper
NM_000219.6
p.S38S
c.114T>C
1 paper
NM_000219.6
p.S38R
c.114T>A
1 paper
NM_000219.6
p.S37I
c.110G>T
1 paper
NM_000219.6
p.S37T
c.110G>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."