Varaico: Literature-Extracted Genetic Variants

Gene:KCNE2
Variant:p.I20N

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
3 papers
NM_172201.2
p.I20N
c.59T>A
Surrounding Variants
1 paper
NM_172201.2
p.F19insFs
c.56dupT
5 papers
NM_172201.2
p.M23L
c.67A>C
5 papers
NM_172201.2
p.M23L
c.67A>T
1 paper
NM_172201.2
p.D24_N25del1
c.72_74delCAA
2 papers
NM_172201.2
p.R16Q
c.47G>A
2 papers
NM_172201.2
p.R16G
c.46C>G
1 paper
NM_172201.2
p.N25K
c.75T>A
1 paper
NM_172201.2
p.F15delFs
c.44delT
2 papers
NM_172201.2
p.W26*
c.77G>A
12 papers
NM_172201.2
p.V14I
c.40G>A
1 paper
NM_172201.2
p.W26*
c.78G>A
3 papers
NM_172201.2
p.V14L
c.40G>C
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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."