Varaico: Literature-Extracted Genetic Variants

Gene:KCNE1
Variant:p.T10T

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.T10T
c.30G>T
Surrounding Variants
3 papers
NM_000219.6
p.T10T
c.30G>A
12 papers
NM_000219.6
p.T10M
c.29C>T
3 papers
NM_000219.6
p.P11S
c.31C>T
1 paper
NM_000219.6
p.P11A
c.31C>G
1 paper
NM_000219.6
p.T10R
c.29C>G
2 papers
NM_000219.6
p.P11T
c.31C>A
1 paper
NM_000219.6
p.T10K
c.29C>A
2 papers
NM_000219.6
p.P11fs
c.31_32fs
2 papers
NM_000219.6
p.P11L
c.32C>T
2 papers
NM_000219.6
p.P11R
c.32C>G
2 papers
NM_000219.6
p.P11H
c.32C>A
2 papers
NM_000219.6
p.T10S
c.28A>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."