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

1 paper

NM_001166412.2

p.R63C

c.187C>T

Surrounding Variants

1 paper

NM_001166412.2

p.Q67K

c.199C>A

1 paper

NM_001166412.2

p.R68C

c.202C>T

1 paper

NM_001166412.2

p.R68H

c.203G>A

1 paper

NM_001166412.2

p.A69V

c.206C>T

1 paper

NM_001166412.2

p.E77delFs

c.230delA

2 papers

NM_001166412.2

p.S47L

c.140C>T

1 paper

NM_001166412.2

p.G46S

c.136G>A

2 papers

NM_001166412.2

p.A45V

c.134C>T

1 paper

NM_001166412.2

p.C44Y

c.131G>A

1 paper

NM_001166412.2

p.C44F

c.131G>T

1 paper

NM_001166412.2

p.Q34K

c.100C>A

1 paper

NM_001166412.2

p.L30W

c.89T>G