Varaico: Literature-Extracted Genetic Variants

SPOCK2

36 papers

RefSeq Summary

This gene encodes a protein which binds with glycosaminoglycans to form part of the extracellular matrix. The protein contains thyroglobulin type-1, follistatin-like, and calcium-binding domains, and ...

Pfam Domains

Kazal_2aa 133–180UCSCKazal-type serine protease inhibitor domain

SPARC_Ca_bdgaa 196–305UCSCSecreted 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 2

HGNC Alias Symbols

KIAA0275; testican-2

Papers

RefSeq ID

Protein change

DNA change

1–12 of 28 variants

2 papers

NM_001244950.2

p.G353S

c.1057G>A

2 papers

NM_001244950.2

p.R369H

c.1106G>A

2 papers

NM_001244950.2

p.E411del1

c.1231_1232delCTC

1 paper

NM_001244950.2

p.F38L

c.112T>C

1 paper

NM_001244950.2

p.F38L

c.114C>G

1 paper

NM_001244950.2

p.F38L

c.114C>A

1 paper

NM_001244950.2

p.E66_D67Splc

c.199-36C>T

1 paper

NM_001244950.2

p.D68N

c.202G>A

1 paper

NM_001244950.2

p.Y69C

c.206A>G

1 paper

NM_001244950.2

p.D80N

c.238G>A

1 paper

NM_001244950.2

p.C90F

c.269G>T

1 paper

NM_001244950.2

p.R120Splc

c.360-20C>A