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

1–12 of 43 variants

4 papers

NM_004598.4

p.D80V

c.239A>T

2 papers

NM_004598.4

p.N37S

c.110A>G

2 papers

NM_004598.4

p.A105T

c.313G>A

2 papers

NM_004598.4

p.V141V

c.423G>T

2 papers

NM_004598.4

p.K201Q

c.601A>C

1 paper

NM_004598.4

p.A5T

c.13G>A

1 paper

NM_004598.4

p.D52G

c.155A>G

1 paper

NM_004598.4

p.Y56H

c.166T>C

1 paper

NM_004598.4

p.D62_D63Splc

c.186+1G>A

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