Varaico: Literature-Extracted Genetic Variants

Gene:KCNE1
Variant:p.M62L

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.M62L
c.184A>C
Surrounding Variants
1 paper
NM_000219.6
p.M62L
c.184A>T
1 paper
NM_000219.6
p.M62V
c.184A>G
2 papers
NM_000219.6
p.M62R
c.185T>G
1 paper
NM_000219.6
p.M62T
c.185T>C
1 paper
NM_000219.6
p.M62K
c.185T>A
1 paper
NM_000219.6
p.I61I
c.183C>T
1 paper
NM_000219.6
p.I61M
c.183C>G
1 paper
NM_000219.6
p.I61I
c.183C>A
1 paper
NM_000219.6
p.I61S
c.182T>G
1 paper
NM_000219.6
p.I61N
c.182T>A
1 paper
NM_000219.6
p.M62I
c.186G>T
2 papers
NM_000219.6
p.M62I
c.186G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."