Varaico: Literature-Extracted Genetic Variants

Gene:SSX2IP
Variant:p.S551P

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
4 papers
NM_001166293.2
p.S551P
c.1651T>C
Surrounding Variants
1 paper
NM_001166293.2
p.K535I
c.1604A>T
1 paper
NM_001166294.2
p.G498R
c.1492G>C
1 paper
NM_001166294.2
p.G498R
c.1492G>A
1 paper
NM_001166293.2
p.A498P
c.1492G>C
1 paper
NM_001166293.2
p.S490L
c.1469C>T
3 papers
NM_001166293.2
p.C578R
c.1732T>C
1 paper
NM_001166293.2
p.N580delFs
c.1739_1740delAT
1 paper
NM_001166293.2
p.S584R
c.1752T>A
1 paper
NM_001166293.2
p.S600F
c.1799C>T
1 paper
NM_001166293.2
p.*615fs
c.1843_1844fs
1 paper
NM_001166293.2
p.L432V
c.1294C>G
1 paper
NM_001166293.2
p.R421*
c.1261C>T
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