Varaico: Literature-Extracted Genetic Variants

Gene:KCNE2
Variant:p.N102I

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.N102I
c.305A>T
Surrounding Variants
1 paper
NM_172201.2
p.L101*
c.302T>A
1 paper
NM_172201.2
p.Q99P
c.296A>C
1 paper
NM_172201.2
p.S106L
c.317C>T
1 paper
NM_172201.2
p.Y96F
c.287A>T
1 paper
NM_172201.2
p.K95N
c.285G>C
1 paper
NM_172201.2
p.K95N
c.285G>T
1 paper
NM_172201.2
p.K95R
c.284A>G
2 papers
NM_172201.2
p.E94G
c.281A>G
3 papers
NM_172201.2
p.E90G
c.269A>G
1 paper
NM_172201.2
p.E90K
c.268G>A
1 paper
NM_172201.2
p.I88I
c.264T>A
13 papers
NM_172201.2
p.A116V
c.347C>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."