Varaico: Literature-Extracted Genetic Variants

Gene:KCNE1
Variant:p.S64I

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.S64I
c.191G>T
Surrounding Variants
1 paper
NM_000219.6
p.S64N
c.191G>A
2 papers
NM_000219.6
p.S64R
c.192C>G
2 papers
NM_000219.6
p.S64R
c.192C>A
6 papers
NM_000219.6
p.S64C
c.190A>T
1 paper
NM_000219.6
p.S64G
c.190A>G
2 papers
NM_000219.6
p.S64R
c.190A>C
1 paper
NM_000219.6
p.Y65D
c.193T>G
2 papers
NM_000219.6
p.Y65H
c.193T>C
3 papers
NM_000219.6
p.Y65N
c.193T>A
1 paper
NM_000219.6
p.L63L
c.189G>T
1 paper
NM_000219.6
p.L63L
c.189G>C
3 papers
NM_000219.6
p.L63L
c.189G>A
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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."