Varaico: Literature-Extracted Genetic Variants

Gene:KCNE1
Variant:p.V95G

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.V95G
c.284T>G
Surrounding Variants
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.V95F
c.283G>T
1 paper
NM_000219.6
p.V95L
c.283G>C
3 papers
NM_000219.6
p.V95I
c.283G>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
1 paper
NM_000219.6
p.Y94*
c.282T>G
1 paper
NM_000219.6
p.Y94*
c.282T>A
1 paper
NM_000219.6
p.Q96E
c.286C>G
1 paper
NM_000219.6
p.Q96K
c.286C>A
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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."