Varaico: Literature-Extracted Genetic Variants

SMOC1

61 papers

RefSeq Summary

This gene encodes a multi-domain secreted protein that may have a critical role in ocular and limb development. Mutations in this gene are associated with microphthalmia and limb anomalies. Alternativ...

Pfam Domains

Kazal_2aa 42–87UCSCKazal-type serine protease inhibitor domain

Thyroglobulin_1aa 95–158UCSCThyroglobulin type-1 repeat

Thyroglob_assocaa 159–219UCSCThyroglobulin_1 repeat associated disordered domain

Thyroglobulin_1aa 227–292UCSCThyroglobulin type-1 repeat

SPARC_Ca_bdgaa 313–424UCSCSecreted protein acidic and rich in cysteine Ca binding region

Gene Aliases

HGNC Name

SPARC related modular calcium binding 1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_001034852.3

p.R75*

c.223C>T

Surrounding Variants

1 paper

NM_001034852.3

p.P77L

c.230C>T

3 papers

NM_001034852.3

p.R71*

c.211C>T

1 paper

NM_001034852.3

p.Q70fs

c.208_209fs

1 paper

NM_001034852.3

p.Q70_H83delFs

c.209_249del41

2 papers

NM_001034852.3

p.V82M

c.244G>A

2 papers

NM_001034852.3

p.G85R

c.253G>C

1 paper

NM_001034852.3

p.E64K

c.190G>A

1 paper

NM_001034852.3

p.G60fs

c.178_179fs

1 paper

NM_001034852.3

p.I55F

c.163A>T

1 paper

NM_001034852.3

p.Q51L

c.152A>T

1 paper

NM_001034852.3

p.T50P

c.148A>C

1 paper

NM_001034852.3

p.R49K

c.146G>A