Varaico: Literature-Extracted Genetic Variants

Gene:SPECC1
Variant:p.E87V

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.E87V
c.260A>T
Surrounding Variants
1 paper
NM_001243439.2
p.R89H
c.266G>A
1 paper
NM_001243439.2
p.L85F
c.253C>T
6 papers
NM_001243439.2
p.I82T
c.245T>C
1 paper
NM_001243439.2
p.A81V
c.242C>T
4 papers
NM_001243439.2
p.R72P
c.215G>C
2 papers
NM_001243439.2
p.V70V
c.210G>T
3 papers
NM_001243439.2
p.V70del1
c.208_209delGTG
1 paper
NM_001243439.2
p.S68L
c.203C>T
3 papers
NM_001243439.2
p.A67V
c.200C>T
1 paper
NM_001243439.2
p.P62T
c.184C>A
2 papers
NM_001243439.2
p.K61R
c.182A>G
1 paper
NM_001243439.2
p.T58T
c.174G>T
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