Varaico: Literature-Extracted Genetic Variants

Gene:KCNE1
Variant:p.S84C

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.S84C
c.251C>G
Surrounding Variants
1 paper
NM_000219.6
p.S84F
c.251C>T
1 paper
NM_000219.6
p.S84Y
c.251C>A
2 papers
NM_000219.6
p.S84A
c.250T>G
1 paper
NM_000219.6
p.S84P
c.250T>C
1 paper
NM_000219.6
p.S84S
c.252C>T
1 paper
NM_000219.6
p.S84S
c.252C>G
1 paper
NM_000219.6
p.S84S
c.252C>A
1 paper
NM_000219.6
p.E83D
c.249G>T
1 paper
NM_000219.6
p.E83D
c.249G>C
256 papers
NM_000219.6
p.D85N
c.253G>A
1 paper
NM_000219.6
p.D85V
c.254A>T
1 paper
NM_000219.6
p.E83V
c.248A>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."