Varaico: Literature-Extracted Genetic Variants

Gene:KCNE1
Variant:p.I82N

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.I82N
c.245T>A
Surrounding Variants
1 paper
NM_000219.6
p.I82S
c.245T>G
1 paper
NM_000219.6
p.I82I
c.246C>T
3 papers
NM_000219.6
p.I82M
c.246C>G
1 paper
NM_000219.6
p.I82I
c.246C>A
4 papers
NM_000219.6
p.I82F
c.244A>T
4 papers
NM_000219.6
p.I82V
c.244A>G
1 paper
NM_000219.6
p.I82L
c.244A>C
1 paper
NM_000219.6
p.I82insFs
c.246dupC
1 paper
NM_000219.6
p.E83Q
c.247G>C
9 papers
NM_000219.6
p.E83K
c.247G>A
1 paper
NM_000219.6
p.E83fs
c.247_248fs
1 paper
NM_000219.6
p.Y81*
c.243C>G
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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."