Varaico: Literature-Extracted Genetic Variants

Gene:KCNE1
Variant:p.E43*

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.E43*
c.127G>T
Surrounding Variants
1 paper
NM_000219.6
p.E43Q
c.127G>C
6 papers
NM_000219.6
p.E43K
c.127G>A
1 paper
NM_000219.6
p.L42L
c.126G>T
1 paper
NM_000219.6
p.L42L
c.126G>C
1 paper
NM_000219.6
p.L42L
c.126G>A
2 papers
NM_000219.6
p.E43V
c.128A>T
1 paper
NM_000219.6
p.E43G
c.128A>G
2 papers
NM_000219.6
p.E43A
c.128A>C
1 paper
NM_000219.6
p.L42R
c.125T>G
1 paper
NM_000219.6
p.L42P
c.125T>C
1 paper
NM_000219.6
p.L42Q
c.125T>A
1 paper
NM_000219.6
p.E43D
c.129G>T
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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."