Varaico: Literature-Extracted Genetic Variants

Gene:SPECC1
Variant:p.K950R

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.K950R
c.2849A>G
Surrounding Variants
1 paper
NM_001243439.2
p.R958Q
c.2873G>A
1 paper
NM_001243439.2
p.R965S
c.2893C>A
1 paper
NM_001243439.2
p.K970R
c.2909A>G
1 paper
NM_001243439.2
p.L918Q
c.2753T>A
1 paper
NM_001243439.2
p.L918V
c.2752C>G
1 paper
NM_001243439.2
p.P907P
c.2721C>A
1 paper
NM_001243439.2
p.S893L
c.2678C>T
1 paper
NM_001243439.2
p.V881M
c.2641G>A
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