Varaico: Literature-Extracted Genetic Variants

Gene:KCNE1
Variant:p.L59M

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.L59M
c.175C>A
Surrounding Variants
1 paper
NM_000219.6
p.L59L
c.175C>T
1 paper
NM_000219.6
p.L59V
c.175C>G
1 paper
NM_000219.6
p.L59R
c.176T>G
12 papers
NM_000219.6
p.L59P
c.176T>C
1 paper
NM_000219.6
p.L59Q
c.176T>A
2 papers
NM_000219.6
p.L59L
c.177G>T
1 paper
NM_000219.6
p.L59L
c.177G>C
1 paper
NM_000219.6
p.L59L
c.177G>A
3 papers
NM_000219.6
p.T58_L59delins
c.172_177delinsCCCCCT
6 papers
NM_000219.6
p.T58I
c.173C>T
2 papers
NM_000219.6
p.T58N
c.173C>A
3 papers
NM_000219.6
p.G60C
c.178G>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."