Varaico: Literature-Extracted Genetic Variants

Gene:KCNE1
Variant:p.Q96E

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
1 paper
NM_000219.6
p.Q96E
c.286C>G
Surrounding Variants
1 paper
NM_000219.6
p.Q96K
c.286C>A
1 paper
NM_000219.6
p.V95V
c.285C>T
1 paper
NM_000219.6
p.V95V
c.285C>G
1 paper
NM_000219.6
p.V95V
c.285C>A
2 papers
NM_000219.6
p.Q96L
c.287A>T
4 papers
NM_000219.6
p.Q96R
c.287A>G
3 papers
NM_000219.6
p.Q96P
c.287A>C
1 paper
NM_000219.6
p.V95G
c.284T>G
1 paper
NM_000219.6
p.V95A
c.284T>C
1 paper
NM_000219.6
p.V95D
c.284T>A
1 paper
NM_000219.6
p.Q96H
c.288G>C
1 paper
NM_000219.6
p.A97S
c.289G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."