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

2 papers

NM_004598.4

p.K201Q

c.601A>C

Surrounding Variants

1 paper

NM_004598.4

p.R204W

c.610C>T

1 paper

NM_004598.4

p.R204Q

c.611G>A

1 paper

NM_004598.4

p.S208F

c.623C>T

1 paper

NM_004598.4

p.R209W

c.625C>T

1 paper

NM_004598.4

p.W213L

c.638G>T

1 paper

NM_004598.4

p.A197Splc

c.590-33G>A

1 paper

NM_004598.4

p.R223G

c.667A>G

1 paper

NM_004598.4

p.P227S

c.679C>T

1 paper

NM_004598.4

p.F237L

c.709T>C

1 paper

NM_004598.4

p.F237L

c.711T>G

1 paper

NM_004598.4

p.F237L

c.711T>A

1 paper

NM_004598.4

p.L264P

c.791T>C