Varaico: Literature-Extracted Genetic Variants

Gene:KCNE1
Variant:p.G52R

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
25 papers
NM_000219.6
p.G52R
c.154G>C
Surrounding Variants
1 paper
NM_000219.6
p.G52*
c.154G>T
25 papers
NM_000219.6
p.G52R
c.154G>A
2 papers
NM_000219.6
p.G52V
c.155G>T
1 paper
NM_000219.6
p.L51L
c.153G>T
4 papers
NM_000219.6
p.G52A
c.155G>C
1 paper
NM_000219.6
p.L51L
c.153G>C
1 paper
NM_000219.6
p.G52E
c.155G>A
1 paper
NM_000219.6
p.L51L
c.153G>A
2 papers
NM_000219.6
p.L51delins
c.152_153delinsAT
2 papers
NM_000219.6
p.L51R
c.152T>G
1 paper
NM_000219.6
p.L51P
c.152T>C
1 paper
NM_000219.6
p.L51Q
c.152T>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."