Varaico: Literature-Extracted Genetic Variants

Gene:KCNE2
Variant:p.N6H

KCNE2

323 papers

RefSeq Summary

Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotr...

Pfam Domains

ISK_Channelaa 5–117UCSCSlow voltage-gated potassium channel

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily E regulatory subunit 2

HGNC Alias Symbols

MiRP1; LQT6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_172201.2
p.N6H
c.16A>C
Surrounding Variants
1 paper
NM_172201.2
p.N6S
c.17A>G
1 paper
NM_172201.2
p.S5P
c.13T>C
92 papers
NM_172201.2
p.T8A
c.22A>G
56 papers
NM_172201.2
p.Q9E
c.25C>G
1 paper
NM_172201.2
p.T10A
c.28A>G
2 papers
NM_172201.2
p.T10K
c.29C>A
26 papers
NM_172201.2
p.T10M
c.29C>T
1 paper
NM_172201.2
p.S2insFs
c.4dupT
1 paper
NM_172201.2
p.M1T
c.2T>C
12 papers
NM_172201.2
p.V14I
c.40G>A
3 papers
NM_172201.2
p.V14L
c.40G>C
1 paper
NM_172201.2
p.F15delFs
c.44delT
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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."