Varaico: Literature-Extracted Genetic Variants

Gene:KCNE1
Variant:p.F12I

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.F12I
c.34T>A
Surrounding Variants
1 paper
NM_000219.6
p.F12V
c.34T>G
1 paper
NM_000219.6
p.F12L
c.34T>C
2 papers
NM_000219.6
p.F12C
c.35T>G
1 paper
NM_000219.6
p.F12S
c.35T>C
1 paper
NM_000219.6
p.F12Y
c.35T>A
1 paper
NM_000219.6
p.P11P
c.33C>T
1 paper
NM_000219.6
p.P11P
c.33C>G
1 paper
NM_000219.6
p.P11P
c.33C>A
1 paper
NM_000219.6
p.F12L
c.36T>G
1 paper
NM_000219.6
p.F12L
c.36T>A
2 papers
NM_000219.6
p.P11L
c.32C>T
2 papers
NM_000219.6
p.P11R
c.32C>G
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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."