Varaico: Literature-Extracted Genetic Variants

Gene:KCNE1
Variant:p.I66N

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
3 papers
NM_000219.6
p.I66N
c.197T>A
Surrounding Variants
1 paper
NM_000219.6
p.I66S
c.197T>G
1 paper
NM_000219.6
p.I66I
c.198C>T
1 paper
NM_000219.6
p.I66M
c.198C>G
1 paper
NM_000219.6
p.I66I
c.198C>A
1 paper
NM_000219.6
p.I66F
c.196A>T
1 paper
NM_000219.6
p.I66V
c.196A>G
2 papers
NM_000219.6
p.I66L
c.196A>C
17 papers
NM_000219.6
p.R67C
c.199C>T
4 papers
NM_000219.6
p.R67G
c.199C>G
3 papers
NM_000219.6
p.R67S
c.199C>A
1 paper
NM_000219.6
p.Y65*
c.195C>A
6 papers
NM_000219.6
p.R67L
c.200G>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."