Varaico: Literature-Extracted Genetic Variants

Gene:SPECC1
Variant:p.S35fs

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.S35fs
c.103_104fs
Surrounding Variants
1 paper
NM_001243439.2
p.S34insFs
c.102dupT
1 paper
NM_001243439.2
p.G31S
c.91G>A
1 paper
NM_001243439.2
p.L41F
c.123G>C
1 paper
NM_001243439.2
p.L41F
c.123G>T
4 papers
NM_001243439.2
p.A27S
c.79G>T
2 papers
NM_001243439.2
p.P26S
c.76C>T
1 paper
NM_001243439.2
p.E44Q
c.130G>C
1 paper
NM_001243439.2
p.P26del1
c.76_77delCCT
1 paper
NM_001243439.2
p.R46Q
c.137G>A
1 paper
NM_001243439.2
p.R23fs
c.67_68fs
1 paper
NM_001243439.2
p.S48R
c.144C>G
1 paper
NM_001243439.2
p.G18S
c.52G>A
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