Varaico: Literature-Extracted Genetic Variants

Gene:SSX2IP
Variant:p.Q283H

SSX2IP

44 papers

RefSeq Summary

This gene encodes a protein that binds the cancer-testis antigen Synovial Sarcoma X breakpoint 2 protein. The encoded protein may regulate the activity of Synovial Sarcoma X breakpoint 2 protein in ma...

Pfam Domains

ADIPaa 63–214UCSCAfadin- and alpha -actinin-Binding

Gene Aliases

HGNC Name

SSX family member 2 interacting protein

HGNC Alias Symbol

hMsd1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001166293.2
p.Q283H
c.849A>T
Surrounding Variants
1 paper
NM_001166293.2
p.Q283H
c.849A>C
1 paper
NM_001166293.2
p.R266H
c.797G>A
1 paper
NM_001166293.2
p.L260F
c.780G>T
1 paper
NM_001166293.2
p.L260F
c.780G>C
1 paper
NM_001166293.2
p.R250Splc
c.749+11G>T
1 paper
NM_001166293.2
p.A225Splc
c.673+1G>C
1 paper
NM_001166293.2
p.R190Q
c.569G>A
1 paper
NM_001166293.2
p.I187T
c.560T>C
1 paper
NM_001166293.2
p.A318T
c.952G>A
1 paper
NM_001166293.2
p.L321Q
c.962T>A
1 paper
NM_001166293.2
p.S322insFs
c.964_965ins19
1 paper
NM_001166293.2
p.K177I
c.530A>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."