Varaico: Literature-Extracted Genetic Variants

Gene:NSMCE3
Variant:p.Q135delFs

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.Q135delFs
c.404delT
Surrounding Variants
1 paper
NM_138704.4
p.Y136F
c.407A>T
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.E163K
c.487G>A
1 paper
NM_138704.4
p.I106V
c.316A>G
1 paper
NM_138704.4
p.A165A
c.495C>G
1 paper
NM_138704.4
p.P105S
c.313C>T
1 paper
NM_138704.4
p.Q94P
c.281A>C
1 paper
NM_138704.4
p.V93L
c.277G>T
1 paper
NM_138704.4
p.V93L
c.277G>C
1 paper
NM_138704.4
p.L183V
c.547T>G
1 paper
NM_138704.4
p.A76V
c.227C>T
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