Varaico: Literature-Extracted Genetic Variants

THBS3

108 papers

RefSeq Summary

The protein encoded by this gene belongs to the thrombospondin family. Thrombospondin family members are adhesive glycoproteins that mediate cell-to-cell and cell-to-matrix interactions. This protein ...

Pfam Domains

COMPaa 226–270UCSCCartilage oligomeric matrix protein

EGF_CAaa 316–357UCSCCalcium-binding EGF domain

EGF_CAaa 370–412UCSCCalcium-binding EGF domain

TSP_3aa 492–527UCSCThrombospondin type 3 repeat

TSP_3aa 551–586UCSCThrombospondin type 3 repeat

TSP_3aa 586–609UCSCThrombospondin type 3 repeat

Gene Aliases

HGNC Name

thrombospondin 3

Papers

RefSeq ID

Protein change

DNA change

1–12 of 118 variants

6 papers

NM_007112.5

p.R102Q

c.305G>A

3 papers

NM_007112.5

p.S279G

c.835A>G

2 papers

NM_007112.5

p.T3M

c.8C>T

2 papers

NM_007112.5

p.R520W

c.1558C>T

2 papers

NM_007112.5

p.R520Q

c.1559G>A

2 papers

NM_007112.5

p.D590N

c.1768G>A

2 papers

NM_007112.5

p.D701N

c.2101G>A

2 papers

NM_007112.5

p.V806I

c.2416G>A

2 papers

NM_007112.5

p.R955G

c.2863A>G

1 paper

NM_007112.5

p.A9V

c.26C>T

1 paper

NM_007112.5

p.L15I

c.43C>A

1 paper

NM_007112.5

p.C16S

c.46T>A