Varaico: Literature-Extracted Genetic Variants

Gene:KCNE1
Variant:p.F56Y

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.F56Y
c.167T>A
Surrounding Variants
4 papers
NM_000219.6
p.F56C
c.167T>G
1 paper
NM_000219.6
p.F56S
c.167T>C
1 paper
NM_000219.6
p.F56V
c.166T>G
1 paper
NM_000219.6
p.F56L
c.166T>C
1 paper
NM_000219.6
p.F56I
c.166T>A
1 paper
NM_000219.6
p.F56F
c.168C>T
1 paper
NM_000219.6
p.F56L
c.168C>G
1 paper
NM_000219.6
p.F56L
c.168C>A
1 paper
NM_000219.6
p.F56delFs
c.167delA
1 paper
NM_000219.6
p.F57V
c.169T>G
2 papers
NM_000219.6
p.F57L
c.169T>C
1 paper
NM_000219.6
p.F57I
c.169T>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."