Varaico: Literature-Extracted Genetic Variants

Gene:KCNE1
Variant:p.C106R

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.C106R
c.316T>C
Surrounding Variants
1 paper
NM_000219.6
p.C106G
c.316T>G
3 papers
NM_000219.6
p.C106S
c.316T>A
1 paper
NM_000219.6
p.C106F
c.317G>T
1 paper
NM_000219.6
p.S105S
c.315G>T
3 papers
NM_000219.6
p.C106S
c.317G>C
1 paper
NM_000219.6
p.S105S
c.315G>C
2 papers
NM_000219.6
p.S105S
c.315G>A
1 paper
NM_000219.6
p.C106Y
c.317G>A
6 papers
NM_000219.6
p.S105L
c.314C>T
1 paper
NM_000219.6
p.C106C
c.318C>T
1 paper
NM_000219.6
p.C106W
c.318C>G
1 paper
NM_000219.6
p.S105W
c.314C>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."