Varaico: Literature-Extracted Genetic Variants

Gene:SPOCK1
Variant:p.D52G

SPOCK1

53 papers

RefSeq Summary

This gene encodes the protein core of a seminal plasma proteoglycan containing chondroitin- and heparan-sulfate chains. The protein's function is unknown, although similarity to thyropin-type cysteine...

Pfam Domains

Kazal_2aa 134–180UCSCKazal-type serine protease inhibitor domain
SPARC_Ca_bdgaa 195–304UCSCSecreted protein acidic and rich in cysteine Ca binding region
Thyroglobulin_1aa 313–376UCSCThyroglobulin type-1 repeat

Gene Aliases

HGNC Name

SPARC (osteonectin), cwcv and kazal like domains proteoglycan 1

HGNC Previous Symbol

TIC1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004598.4
p.D52G
c.155A>G
Surrounding Variants
1 paper
NM_004598.4
p.Y56H
c.166T>C
1 paper
NM_004598.4
p.D62_D63Splc
c.186+1G>A
2 papers
NM_004598.4
p.N37S
c.110A>G
1 paper
NM_004598.4
p.A5T
c.13G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."