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

1–12 of 80 variants

4 papers

NM_001034852.3

p.Q92*

c.274C>T

4 papers

NM_001034852.3

p.S123P

c.367T>C

4 papers

NM_001034852.3

p.Y132insFs

c.395dupA

4 papers

NM_001034852.3

p.T283N

c.848C>A

3 papers

NM_001034852.3

p.R71*

c.211C>T

3 papers

NM_001034852.3

p.R75*

c.223C>T

3 papers

NM_001034852.3

p.Q126_V127Splc

c.378+1G>A

3 papers

NM_001034852.3

p.E222Splc

c.664+1G>A

3 papers

NM_001034852.3

p.Q240*

c.718C>T

3 papers

NM_001034852.3

p.C271Y

c.812G>A

3 papers

NM_001034852.3

p.R278C

c.832C>T

3 papers

NM_001034852.3

p.R286H

c.857G>A