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

Selected Variant

2 papers

NM_001166412.2

p.Q121E

c.361C>G

Surrounding Variants

1 paper

NM_001166412.2

p.T118N

c.353C>A

1 paper

NM_001166412.2

p.K103insFs

c.307_308insAC

1 paper

NM_001166412.2

p.R102Q

c.305G>A

1 paper

NM_001166412.2

p.A92V

c.275C>T

1 paper

NM_001166412.2

p.V91_E93delFs

c.273_277del5

1 paper

NM_001166412.2

p.V87M

c.259G>A

1 paper

NM_001166412.2

p.A145V

c.434C>T

1 paper

NM_001166412.2

p.R152R

c.454C>A