Varaico: Literature-Extracted Genetic Variants

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.K119K

c.357G>A

Surrounding Variants

1 paper

NM_004598.4

p.V134F

c.400G>T

2 papers

NM_004598.4

p.V141V

c.423G>T

1 paper

NM_004598.4

p.K158_C159Splc

c.474+81C>T