Varaico: Literature-Extracted Genetic Variants

Gene:SPECC1
Variant:p.R527Q

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.R527Q
c.1580G>A
Surrounding Variants
1 paper
NM_001243439.2
p.M533I
c.1599G>A
1 paper
NM_001243439.2
p.M533I
c.1599G>C
1 paper
NM_001243439.2
p.M533I
c.1599G>T
1 paper
NM_001243439.2
p.C493S
c.1477T>A
1 paper
NM_001243439.2
p.T492I
c.1475C>T
1 paper
NM_001243439.2
p.A565D
c.1694C>A
6 papers
NM_001243439.2
p.A570D
c.1709C>A
1 paper
NM_001243439.2
p.A570V
c.1709C>T
1 paper
NM_001243439.2
p.T574K
c.1721C>A
1 paper
NM_001243439.2
p.V580I
c.1738G>A
1 paper
NM_001243439.2
p.M583V
c.1747A>G
1 paper
NM_001243439.2
p.E465*
c.1393G>T
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