Varaico: Literature-Extracted Genetic Variants

Gene:KCNE1
Variant:p.Y46*

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
5 papers
NM_000219.6
p.Y46*
c.138C>A
Surrounding Variants
5 papers
NM_000219.6
p.Y46*
c.138C>G
15 papers
NM_000219.6
p.V47F
c.139G>T
1 paper
NM_000219.6
p.V47L
c.139G>C
13 papers
NM_000219.6
p.V47I
c.139G>A
3 papers
NM_000219.6
p.Y46F
c.137A>T
9 papers
NM_000219.6
p.Y46C
c.137A>G
1 paper
NM_000219.6
p.Y46S
c.137A>C
1 paper
NM_000219.6
p.V47G
c.140T>G
1 paper
NM_000219.6
p.Y46D
c.136T>G
2 papers
NM_000219.6
p.Y46H
c.136T>C
1 paper
NM_000219.6
p.V47A
c.140T>C
2 papers
NM_000219.6
p.Y46N
c.136T>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."