Varaico: Literature-Extracted Genetic Variants

Gene:KCNE1
Variant:p.R33S

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.R33S
c.99G>T
Surrounding Variants
2 papers
NM_000219.6
p.R33S
c.99G>C
1 paper
NM_000219.6
p.R33R
c.99G>A
1 paper
NM_000219.6
p.S34A
c.100T>G
3 papers
NM_000219.6
p.S34P
c.100T>C
2 papers
NM_000219.6
p.S34T
c.100T>A
2 papers
NM_000219.6
p.R33M
c.98G>T
1 paper
NM_000219.6
p.R33T
c.98G>C
1 paper
NM_000219.6
p.R33K
c.98G>A
2 papers
NM_000219.6
p.S34F
c.101C>T
2 papers
NM_000219.6
p.S34C
c.101C>G
1 paper
NM_000219.6
p.S34Y
c.101C>A
1 paper
NM_000219.6
p.R33W
c.97A>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."