Varaico: Literature-Extracted Genetic Variants

Gene:KCNE1
Variant:p.E110D

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.E110D
c.330A>C
Surrounding Variants
1 paper
NM_000219.6
p.E110D
c.330A>T
1 paper
NM_000219.6
p.E110E
c.330A>G
1 paper
NM_000219.6
p.N111Y
c.331A>T
1 paper
NM_000219.6
p.E110V
c.329A>T
1 paper
NM_000219.6
p.N111D
c.331A>G
1 paper
NM_000219.6
p.E110G
c.329A>G
1 paper
NM_000219.6
p.N111H
c.331A>C
1 paper
NM_000219.6
p.E110A
c.329A>C
1 paper
NM_000219.6
p.E110*
c.328G>T
1 paper
NM_000219.6
p.E110Q
c.328G>C
1 paper
NM_000219.6
p.E110K
c.328G>A
1 paper
NM_000219.6
p.S105_V109delFs
c.313_326del14
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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."