Varaico: Literature-Extracted Genetic Variants

Gene:KCNE1
Variant:p.N75H

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
2 papers
NM_000219.6
p.N75H
c.223A>C
Surrounding Variants
1 paper
NM_000219.6
p.N75Y
c.223A>T
1 paper
NM_000219.6
p.N75D
c.223A>G
1 paper
NM_000219.6
p.S74S
c.222G>T
1 paper
NM_000219.6
p.S74S
c.222G>C
1 paper
NM_000219.6
p.S74S
c.222G>A
1 paper
NM_000219.6
p.N75I
c.224A>T
1 paper
NM_000219.6
p.N75S
c.224A>G
55 papers
NM_000219.6
p.S74L
c.221C>T
4 papers
NM_000219.6
p.S74W
c.221C>G
1 paper
NM_000219.6
p.N75K
c.225C>G
2 papers
NM_000219.6
p.N75fs
c.223_224fs
1 paper
NM_000219.6
p.N75K
c.225C>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."