Varaico: Literature-Extracted Genetic Variants

SMOC2

74 papers

RefSeq Summary

This gene encodes a member of the SPARC family (secreted protein acidic and rich in cysteine/osteonectin/BM-40), which are highly expressed during embryogenesis and wound healing. The gene product is ...

Pfam Domains

Kazal_2aa 39–84UCSCKazal-type serine protease inhibitor domain

Thyroglobulin_1aa 90–153UCSCThyroglobulin type-1 repeat

Thyroglob_assocaa 154–214UCSCThyroglobulin_1 repeat associated disordered domain

Thyroglobulin_1aa 216–281UCSCThyroglobulin type-1 repeat

Gene Aliases

HGNC Name

SPARC related modular calcium binding 2

Papers

RefSeq ID

Protein change

DNA change

1–12 of 58 variants

6 papers

NM_001166412.2

p.T28_F29Splc

c.84+1G>T

3 papers

NM_001166412.2

p.W8*

c.24G>A

2 papers

NM_001166412.2

p.W8*

c.23G>A

2 papers

NM_001166412.2

p.A45V

c.134C>T

2 papers

NM_001166412.2

p.S47L

c.140C>T

2 papers

NM_001166412.2

p.Q121E

c.361C>G

2 papers

NM_022138.3

p.C227*

c.681T>A

2 papers

NM_001166412.2

p.L359R

c.1076T>G

1 paper

NM_001166412.2

p.P4insFs

c.10dupC

1 paper

NM_001166412.2

p.A21A

c.63T>G

1 paper

NM_001166412.2

p.L30W

c.89T>G

1 paper

NM_001166412.2

p.Q34K

c.100C>A