Varaico: Literature-Extracted Genetic Variants

Gene:SPECC1
Variant:p.S126T

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
5 papers
NM_001243439.2
p.S126T
c.376T>A
Surrounding Variants
1 paper
NM_001243439.2
p.T136I
c.407C>T
1 paper
NM_001243439.2
p.S112L
c.335C>T
1 paper
NM_001243439.2
p.F111L
c.333T>A
1 paper
NM_001243439.2
p.P108L
c.323C>T
8 papers
NM_001243439.2
p.P108S
c.322C>T
1 paper
NM_001243439.2
p.H146Q
c.438C>A
1 paper
NM_001243439.2
p.H146Q
c.438C>G
1 paper
NM_001243439.2
p.I105insFs
c.315dupT
1 paper
NM_001243439.2
p.T149del1
c.445_447delACC
1 paper
NM_001243439.2
p.N158K
c.474T>A
1 paper
NM_001243439.2
p.G160S
c.478G>A
1 paper
NM_001243439.2
p.K163E
c.487A>G
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