Varaico: Literature-Extracted Genetic Variants

Gene:SPECC1
Variant:p.D272Y

SPECC1

216 papers

RefSeq Summary

The protein encoded by this gene belongs to the cytospin-A family. It is localized in the nucleus, and highly expressed in testis and some cancer cell lines. A chromosomal translocation involving this...

Pfam Domains

CHaa 962–1068UCSCCalponin homology (CH) domain

Gene Aliases

HGNC Name

sperm antigen with calponin homology and coiled-coil domains 1

HGNC Previous Symbol

CYTSB

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001243439.2
p.D272Y
c.814G>T
Surrounding Variants
1 paper
NM_001243439.2
p.S273insFs
c.817dupA
1 paper
NM_001243439.2
p.G271fs
c.811_812fs
2 papers
NM_001243439.2
p.S274R
c.820A>C
2 papers
NM_001243439.2
p.S274R
c.822C>A
2 papers
NM_001243439.2
p.S274R
c.822C>G
2 papers
NM_001243439.2
p.A266V
c.797C>T
1 paper
NM_001243439.2
p.S284G
c.850A>G
1 paper
NM_001243439.2
p.F285Y
c.854T>A
1 paper
NM_001243439.2
p.L250Q
c.749T>A
1 paper
NM_001243439.2
p.R248W
c.742C>T
4 papers
NM_001243439.2
p.K301delFs
c.901delA
2 papers
NM_001243439.2
p.K301fs
c.901_902fs
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