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

4 papers

NM_001034852.3

p.Q92*

c.274C>T

Surrounding Variants

1 paper

NM_001034852.3

p.S93N

c.278G>A

1 paper

NM_001034852.3

p.K94K

c.282G>A

1 paper

NM_001034852.3

p.L97P

c.290T>C

1 paper

NM_001034852.3

p.R99W

c.295C>T

1 paper

NM_001034852.3

p.R99Q

c.296G>A

1 paper

NM_001034852.3

p.A102A

c.306C>G

1 paper

NM_001034852.3

p.Q105K

c.313C>A

1 paper

NM_001034852.3

p.V113_F114delFs

c.339_340delGT

1 paper

NM_001034852.3

p.F114fs

c.340_341fs

4 papers

NM_001034852.3

p.S123P

c.367T>C

1 paper

NM_001034852.3

p.F124C

c.371T>G

1 paper

NM_001034852.3

p.Q126H

c.378G>C