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

1 paper

NM_001034852.3

p.K308R

c.923A>G

Surrounding Variants

1 paper

NM_001034852.3

p.D305fs

c.913_914fs

1 paper

NM_001034852.3

p.D304delins

c.910_911delinsAA

1 paper

NM_001034852.3

p.D304fs

c.910_911fs

2 papers

NM_001034852.3

p.D304delFs

c.910delG

1 paper

NM_001034852.3

p.E302D

c.906G>C

1 paper

NM_001034852.3

p.E302D

c.906G>T

2 papers

NM_001034852.3

p.A296T

c.886G>A

1 paper

NM_001034852.3

p.D295delFs

c.883delG

1 paper

NM_001034852.3

p.V288M

c.862G>A

3 papers

NM_001034852.3

p.R286H

c.857G>A

4 papers

NM_001034852.3

p.T283N

c.848C>A

1 paper

NM_001034852.3

p.G282A

c.845G>C