Varaico: Literature-Extracted Genetic Variants

Gene:KCNE1
Variant:p.M27I

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.M27I
c.81G>T
Surrounding Variants
1 paper
NM_000219.6
p.M27I
c.81G>C
1 paper
NM_000219.6
p.M27I
c.81G>A
1 paper
NM_000219.6
p.M27insFs
c.80_81insGG
1 paper
NM_000219.6
p.S28A
c.82T>G
1 paper
NM_000219.6
p.M27R
c.80T>G
2 papers
NM_000219.6
p.M27T
c.80T>C
1 paper
NM_000219.6
p.S28P
c.82T>C
4 papers
NM_000219.6
p.S28T
c.82T>A
1 paper
NM_000219.6
p.M27K
c.80T>A
14 papers
NM_000219.6
p.S28L
c.83C>T
1 paper
NM_000219.6
p.S28W
c.83C>G
1 paper
NM_000219.6
p.S28*
c.83C>A
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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."