Varaico: Literature-Extracted Genetic Variants

Gene:SPECC1
Variant:p.K301delFs

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
4 papers
NM_001243439.2
p.K301delFs
c.901delA
Surrounding Variants
2 papers
NM_001243439.2
p.K301fs
c.901_902fs
1 paper
NM_001243439.2
p.K302I
c.905A>T
3 papers
NM_001243439.2
p.N303fs
c.907_908fs
3 papers
NM_001243439.2
p.N303fs
c.907_908fs
1 paper
NM_001243439.2
p.R310Q
c.929G>A
1 paper
NM_001243439.2
p.F285Y
c.854T>A
1 paper
NM_001243439.2
p.S284G
c.850A>G
1 paper
NM_001243439.2
p.P326L
c.977C>T
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.S274R
c.820A>C
1 paper
NM_001243439.2
p.S273insFs
c.817dupA
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