Varaico: Literature-Extracted Genetic Variants

Gene:SSX2
Variant:p.R169H

SSX2

19 papers

RefSeq Summary

The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of el...

Pfam Domains

KRABaa 22–62UCSCKRAB box
KRABaa 22–62UCSCKRAB box
SSXRDaa 158–187UCSCSSXRD motif
SSXRDaa 158–187UCSCSSXRD motif
SSXRDaa 158–187UCSCSSXRD motif
SSXRDaa 158–187UCSCSSXRD motif

Gene Aliases

HGNC Name

SSX family member 2

HGNC Alias Symbols

HOM-MEL-40; HD21; MGC3884; MGC15364; MGC119055; CT5.2a

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_175698.4
p.R169H
c.506G>A
Surrounding Variants
1 paper
NM_175698.4
p.E188K
c.562G>A
1 paper
NM_175698.4
p.C72G
c.214T>G
1 paper
NM_175698.4
p.E56D
c.168G>T
1 paper
NM_175698.4
p.E56D
c.168G>C
1 paper
NM_175698.4
p.E38V
c.113A>T
1 paper
NM_175698.4
p.W37S
c.110G>C
1 paper
NM_175698.4
p.A24A
c.72C>G
1 paper
NM_175698.4
p.R10R
c.30A>G
1 paper
NM_175698.4
p.M1T
c.2T>C
1 paper
NM_175698.4
p.M1K
c.2T>A
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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."