Varaico: Literature-Extracted Genetic Variants

Gene:KCNE1
Variant:p.S38S

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.S38S
c.114T>C
Surrounding Variants
1 paper
NM_000219.6
p.S38R
c.114T>G
1 paper
NM_000219.6
p.S38R
c.114T>A
1 paper
NM_000219.6
p.D39Y
c.115G>T
1 paper
NM_000219.6
p.S38I
c.113G>T
1 paper
NM_000219.6
p.D39H
c.115G>C
1 paper
NM_000219.6
p.S38T
c.113G>C
2 papers
NM_000219.6
p.D39N
c.115G>A
2 papers
NM_000219.6
p.S38N
c.113G>A
2 papers
NM_000219.6
p.S38C
c.112A>T
1 paper
NM_000219.6
p.D39V
c.116A>T
106 papers
NM_000219.6
p.S38G
c.112A>G
2 papers
NM_000219.6
p.D39G
c.116A>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."