Varaico: Literature-Extracted Genetic Variants

Gene:NSMCE3
Variant:p.L183V

NSMCE3

41 papers

RefSeq Summary

The protein encoded by this gene is part of the SMC5-6 chromatin reorganizing complex and is a member of the MAGE superfamily. This is an intronless gene. [provided by RefSeq, May 2011].

Pfam Domains

MAGEaa 92–261UCSCMAGE homology domain

Gene Aliases

HGNC Name

NSE3 component of SMC5/6 complex

HGNC Previous Symbol

NDNL2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_138704.4
p.L183V
c.547T>G
Surrounding Variants
1 paper
NM_138704.4
p.A165A
c.495C>G
1 paper
NM_138704.4
p.E163K
c.487G>A
1 paper
NM_138704.4
p.V207I
c.619G>A
4 papers
NM_138704.4
p.P209L
c.626C>T
1 paper
NM_138704.4
p.R229G
c.685C>G
1 paper
NM_138704.4
p.Y136F
c.407A>T
1 paper
NM_138704.4
p.Q135delFs
c.404delT
1 paper
NM_138704.4
p.D245N
c.733G>A
1 paper
NM_138704.4
p.W250*
c.749G>A
1 paper
NM_138704.4
p.H114Q
c.342C>G
1 paper
NM_138704.4
p.H114Q
c.342C>A
1 paper
NM_138704.4
p.K260*
c.778A>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."