Varaico: Literature-Extracted Genetic Variants

Gene:SPECC1
Variant:p.K234R

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.K234R
c.701A>G
Surrounding Variants
1 paper
NM_001243439.2
p.E239del1
c.715_716delGAG
1 paper
NM_001243439.2
p.T222delFs
c.665delC
1 paper
NM_001243439.2
p.T222delFs
c.664delA
1 paper
NM_001243439.2
p.R248W
c.742C>T
1 paper
NM_001243439.2
p.L250Q
c.749T>A
1 paper
NM_001243439.2
p.V212F
c.634G>T
1 paper
NM_001243439.2
p.N211K
c.633T>A
1 paper
NM_001243439.2
p.N211K
c.633T>G
2 papers
NM_001243439.2
p.N211I
c.632A>T
6 papers
NM_001243439.2
p.T205I
c.614C>T
18 papers
NM_001243439.2
p.G204R
c.610G>A
18 papers
NM_001243439.2
p.G204R
c.610G>C
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