Varaico: Literature-Extracted Genetic Variants

Gene:KCNE1
Variant:p.E19D

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.E19D
c.57G>T
Surrounding Variants
2 papers
NM_000219.6
p.E19D
c.57G>C
1 paper
NM_000219.6
p.T20S
c.58A>T
1 paper
NM_000219.6
p.E19V
c.56A>T
1 paper
NM_000219.6
p.T20A
c.58A>G
1 paper
NM_000219.6
p.E19G
c.56A>G
1 paper
NM_000219.6
p.T20P
c.58A>C
1 paper
NM_000219.6
p.E19A
c.56A>C
1 paper
NM_000219.6
p.E19*
c.55G>T
13 papers
NM_000219.6
p.E19Q
c.55G>C
4 papers
NM_000219.6
p.E19K
c.55G>A
8 papers
NM_000219.6
p.T20I
c.59C>T
1 paper
NM_000219.6
p.T20R
c.59C>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."