Varaico: Literature-Extracted Genetic Variants

Gene:KCNE1
Variant:p.L48H

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
2 papers
NM_000219.6
p.L48H
c.143T>A
Surrounding Variants
2 papers
NM_000219.6
p.L48R
c.143T>G
3 papers
NM_000219.6
p.L48P
c.143T>C
5 papers
NM_000219.6
p.L48F
c.142C>T
1 paper
NM_000219.6
p.L48L
c.144C>T
1 paper
NM_000219.6
p.L48L
c.144C>G
1 paper
NM_000219.6
p.L48V
c.142C>G
4 papers
NM_000219.6
p.L48I
c.142C>A
1 paper
NM_000219.6
p.L48L
c.144C>A
1 paper
NM_000219.6
p.V47V
c.141C>T
1 paper
NM_000219.6
p.V47V
c.141C>G
1 paper
NM_000219.6
p.V47V
c.141C>A
1 paper
NM_000219.6
p.M49L
c.145A>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."