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_022138.3

p.L273_G277del5

c.817_830del15

Surrounding Variants

1 paper

NM_001166412.2

p.V261I

c.781G>A

1 paper

NM_001166412.2

p.S254P

c.760T>C

1 paper

NM_001166412.2

p.V236L

c.706G>T

1 paper

NM_001166412.2

p.E219K

c.655G>A

2 papers

NM_022138.3

p.C227*

c.681T>A

1 paper

NM_001166412.2

p.S215F

c.644C>T

1 paper

NM_001166412.2

p.R275Splc

c.825-1890C>G

1 paper

NM_001166412.2

p.P289S

c.865C>T

1 paper

NM_001166412.2

p.R293W

c.877C>T

1 paper

NM_001166412.2

p.L295M

c.883C>A

1 paper

NM_001166412.2

p.Q300*

c.898C>T