Varaico: Literature-Extracted Genetic Variants

Gene:KCNE1
Variant:p.M1V

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.M1V
c.1A>G
Surrounding Variants
2 papers
NM_000219.6
p.M1L
c.1A>T
2 papers
NM_000219.6
p.M1L
c.1A>C
1 paper
NM_000219.6
p.M1R
c.2T>G
2 papers
NM_000219.6
p.M1T
c.2T>C
1 paper
NM_000219.6
p.M1K
c.2T>A
1 paper
NM_000219.6
p.M1I
c.3G>T
1 paper
NM_000219.6
p.M1I
c.3G>C
1 paper
NM_000219.6
p.M1I
c.3G>A
2 papers
NM_000219.6
p.I2F
c.4A>T
2 papers
NM_000219.6
p.I2V
c.4A>G
1 paper
NM_000219.6
p.I2L
c.4A>C
1 paper
NM_000219.6
p.I2insFs
c.4dupA
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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."