Varaico: Literature-Extracted Genetic Variants

Gene:KCNE1
Variant:p.S68Y

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
2 papers
NM_000219.6
p.S68Y
c.203C>A
Surrounding Variants
1 paper
NM_000219.6
p.S68F
c.203C>T
4 papers
NM_000219.6
p.S68C
c.203C>G
3 papers
NM_000219.6
p.S68A
c.202T>G
2 papers
NM_000219.6
p.S68P
c.202T>C
9 papers
NM_000219.6
p.S68T
c.202T>A
1 paper
NM_000219.6
p.S68S
c.204C>T
1 paper
NM_000219.6
p.S68S
c.204C>G
1 paper
NM_000219.6
p.S68S
c.204C>A
1 paper
NM_000219.6
p.R67R
c.201C>T
1 paper
NM_000219.6
p.R67R
c.201C>G
1 paper
NM_000219.6
p.R67R
c.201C>A
3 papers
NM_000219.6
p.K69E
c.205A>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."