Varaico: Literature-Extracted Genetic Variants

Gene:KCNE1
Variant:p.Q18E

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.Q18E
c.52C>G
Surrounding Variants
1 paper
NM_000219.6
p.Q18*
c.52C>T
1 paper
NM_000219.6
p.Q18K
c.52C>A
1 paper
NM_000219.6
p.W17C
c.51G>T
1 paper
NM_000219.6
p.W17C
c.51G>C
8 papers
NM_000219.6
p.W17*
c.51G>A
1 paper
NM_000219.6
p.Q18L
c.53A>T
1 paper
NM_000219.6
p.Q18R
c.53A>G
1 paper
NM_000219.6
p.Q18P
c.53A>C
1 paper
NM_000219.6
p.Q18H
c.54G>T
1 paper
NM_000219.6
p.W17L
c.50G>T
1 paper
NM_000219.6
p.Q18H
c.54G>C
1 paper
NM_000219.6
p.W17S
c.50G>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."