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

Selected Variant

1 paper

NM_001244950.2

p.R344W

c.1030C>T

Surrounding Variants

2 papers

NM_001244950.2

p.G353S

c.1057G>A

1 paper

NM_001244950.2

p.I332S

c.995T>G

2 papers

NM_001244950.2

p.R369H

c.1106G>A

1 paper

NM_001244950.2

p.V380M

c.1138G>A

1 paper

NM_001244950.2

p.W392L

c.1175G>T

1 paper

NM_001244950.2

p.G404R

c.1210G>C

2 papers

NM_001244950.2

p.E411del1

c.1231_1232delCTC

1 paper

NM_001244950.2

p.E413K

c.1237G>A

1 paper

NM_001244950.2

p.P312P

c.936C>T

1 paper

NM_001244950.2

p.K293E

c.877A>G

1 paper

NM_001244950.2

p.Y278fs

c.832_833fs

1 paper

NM_001244950.2

p.A244fs

c.730_731fs