Varaico: Literature-Extracted Genetic Variants

Gene:SPECC1
Variant:p.E172K

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.E172K
c.514G>A
Surrounding Variants
1 paper
NM_001243439.2
p.R171W
c.511C>T
1 paper
NM_001243439.2
p.A164_A165insFs
c.492_495dup4
1 paper
NM_001243439.2
p.K163E
c.487A>G
1 paper
NM_001243439.2
p.G160S
c.478G>A
1 paper
NM_001243439.2
p.N158K
c.474T>A
1 paper
NM_001243439.2
p.R186W
c.556A>T
1 paper
NM_001243439.2
p.T149del1
c.445_447delACC
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.T199N
c.596C>A
18 papers
NM_001243439.2
p.G204R
c.610G>A
18 papers
NM_001243439.2
p.G204R
c.610G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."