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

4 papers

NM_004598.4

p.D80V

c.239A>T

Surrounding Variants

1 paper

NM_004598.4

p.D80N

c.238G>A

1 paper

NM_004598.4

p.P93S

c.277C>T

1 paper

NM_004598.4

p.P93L

c.278C>T

2 papers

NM_004598.4

p.A105T

c.313G>A

1 paper

NM_004598.4

p.R110S

c.328C>A

1 paper

NM_004598.4

p.R110L

c.329G>T

1 paper

NM_004598.4

p.R110H

c.329G>A