Varaico: Literature-Extracted Genetic Variants

Gene:KCNE1
Variant:p.L3_S4delFs

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.L3_S4delFs
c.9_12del4
Surrounding Variants
1 paper
NM_000219.6
p.N5Y
c.13A>T
1 paper
NM_000219.6
p.N5D
c.13A>G
1 paper
NM_000219.6
p.N5H
c.13A>C
2 papers
NM_000219.6
p.S4insFs
c.12dupT
2 papers
NM_000219.6
p.S4fs
c.10_11fs
1 paper
NM_000219.6
p.S4S
c.12T>G
1 paper
NM_000219.6
p.S4S
c.12T>C
1 paper
NM_000219.6
p.S4S
c.12T>A
2 papers
NM_000219.6
p.N5I
c.14A>T
1 paper
NM_000219.6
p.N5S
c.14A>G
1 paper
NM_000219.6
p.N5N
c.15C>T
1 paper
NM_000219.6
p.S4F
c.11C>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."