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

Selected Variant

1 paper

NM_007112.5

p.C16S

c.46T>A

Surrounding Variants

1 paper

NM_007112.5

p.C16S

c.47G>C

1 paper

NM_007112.5

p.L15I

c.43C>A

1 paper

NM_007112.5

p.A9V

c.26C>T

2 papers

NM_007112.5

p.T3M

c.8C>T

1 paper

NM_007112.5

p.D29Y

c.85G>T

1 paper

NM_007112.5

p.G34R

c.100G>C

1 paper

NM_007112.5

p.E35Q

c.103G>C

1 paper

NM_007112.5

p.S36C

c.107C>G

1 paper

NM_007112.5

p.V42delFs

c.125_126delCA

1 paper

NM_007112.5

p.A49T

c.145G>A

1 paper

NM_007112.5

p.L51L

c.153C>A

1 paper

NM_007112.5

p.R63H

c.188G>A