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.K373*

c.1117A>T

Surrounding Variants

1 paper

NM_001166412.2

p.R380C

c.1138C>T

2 papers

NM_001166412.2

p.L359R

c.1076T>G

1 paper

NM_001166412.2

p.V415M

c.1243G>A

1 paper

NM_001166412.2

p.D419N

c.1255G>A

1 paper

NM_001166412.2

p.A422V

c.1265C>T

1 paper

NM_001166412.2

p.D423G

c.1268A>G

1 paper

NM_001166412.2

p.R427C

c.1279C>T

1 paper

NM_001166412.2

p.R427H

c.1280G>A

1 paper

NM_001166412.2

p.R427R

c.1281C>G

1 paper

NM_001166412.2

p.H310D

c.928C>G

1 paper

NM_001166412.2

p.C304delFs

c.911delG