Varaico: Literature-Extracted Genetic Variants

Gene:KCNE1
Variant:p.F78L

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.F78L
c.234C>G
Surrounding Variants
1 paper
NM_000219.6
p.F78F
c.234C>T
1 paper
NM_000219.6
p.F78L
c.234C>A
3 papers
NM_000219.6
p.F78C
c.233T>G
1 paper
NM_000219.6
p.F78S
c.233T>C
1 paper
NM_000219.6
p.F78Y
c.233T>A
1 paper
NM_000219.6
p.N79Y
c.235A>T
2 papers
NM_000219.6
p.N79D
c.235A>G
1 paper
NM_000219.6
p.N79H
c.235A>C
1 paper
NM_000219.6
p.F78V
c.232T>G
1 paper
NM_000219.6
p.F78L
c.232T>C
1 paper
NM_000219.6
p.F78I
c.232T>A
1 paper
NM_000219.6
p.N79I
c.236A>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."