Varaico: Literature-Extracted Genetic Variants

Gene:KCNE1
Variant:p.F54Y

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.F54Y
c.161T>A
Surrounding Variants
10 papers
NM_000219.6
p.F54C
c.161T>G
1 paper
NM_000219.6
p.F54S
c.161T>C
8 papers
NM_000219.6
p.F54V
c.160T>G
2 papers
NM_000219.6
p.F54L
c.160T>C
1 paper
NM_000219.6
p.F54I
c.160T>A
5 papers
NM_000219.6
p.F54F
c.162C>T
2 papers
NM_000219.6
p.F54L
c.162C>G
2 papers
NM_000219.6
p.F54L
c.162C>A
12 papers
NM_000219.6
p.G55C
c.163G>T
3 papers
NM_000219.6
p.G55R
c.163G>C
8 papers
NM_000219.6
p.G55S
c.163G>A
1 paper
NM_000219.6
p.F53F
c.159C>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."