Varaico: Literature-Extracted Genetic Variants

Gene:SPECC1
Variant:p.N440K

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
9 papers
NM_001243439.2
p.N440K
c.1320T>A
Surrounding Variants
9 papers
NM_001243439.2
p.N440K
c.1320T>G
1 paper
NM_001243439.2
p.N445_L447del3
c.1333_1340del9
1 paper
NM_001243439.2
p.L436L
c.1306C>T
1 paper
NM_001243439.2
p.F426S
c.1277T>C
1 paper
NM_001243439.2
p.E465*
c.1393G>T
2 papers
NM_001243439.2
p.V416M
c.1246G>A
1 paper
NM_001243439.2
p.N412S
c.1235A>G
1 paper
NM_001243439.2
p.L395V
c.1183C>G
1 paper
NM_001243439.2
p.E390Q
c.1168G>C
1 paper
NM_001243439.2
p.T492I
c.1475C>T
1 paper
NM_001243439.2
p.C493S
c.1477T>A
1 paper
NM_001243439.2
p.S372T
c.1114T>A
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