Varaico: Literature-Extracted Genetic Variants

Gene:KCNE2
Variant:p.M56T

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.M56T
c.167T>C
Surrounding Variants
2 papers
NM_172201.2
p.M56V
c.166A>G
60 papers
NM_172201.2
p.I57T
c.170T>C
1 paper
NM_172201.2
p.V55_I63delFs
c.165_187del23
54 papers
NM_172201.2
p.M54T
c.161T>C
1 paper
NM_172201.2
p.M54R
c.161T>G
6 papers
NM_172201.2
p.F60L
c.178T>C
5 papers
NM_172201.2
p.F60L
c.180C>A
5 papers
NM_172201.2
p.F60L
c.180C>G
2 papers
NM_172201.2
p.I64F
c.190A>T
1 paper
NM_172201.2
p.Y48*
c.144T>A
1 paper
NM_172201.2
p.Y48Y
c.144T>C
1 paper
NM_172201.2
p.Y48C
c.143A>G
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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."