Varaico: Literature-Extracted Genetic Variants

Gene:SPECC1

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
1–12 of 143 variants
18 papers
NM_001243439.2
p.G204R
c.610G>A
18 papers
NM_001243439.2
p.G204R
c.610G>C
9 papers
NM_001243439.2
p.N440K
c.1320T>A
9 papers
NM_001243439.2
p.N440K
c.1320T>G
8 papers
NM_001243439.2
p.P108S
c.322C>T
6 papers
NM_001243439.2
p.I82T
c.245T>C
6 papers
NM_001243439.2
p.T205I
c.614C>T
6 papers
NM_001243439.2
p.A570D
c.1709C>A
6 papers
NM_001243439.2
p.D796Y
c.2386G>T
5 papers
NM_001243439.2
p.S126T
c.376T>A
4 papers
NM_001243439.2
p.A27S
c.79G>T
4 papers
NM_001243439.2
p.R72P
c.215G>C
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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."