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.C344W

c.1032T>G

Surrounding Variants

1 paper

NM_007112.5

p.G357D

c.1070G>A

1 paper

NM_007112.5

p.I358T

c.1073T>C

1 paper

NM_007112.5

p.R362Q

c.1085G>A

1 paper

NM_007112.5

p.P325_C326delFs

c.975_976delAG

1 paper

NM_007112.5

p.P325fs

c.973_974fs

1 paper

NM_007112.5

p.G377S

c.1129G>A

1 paper

NM_007112.5

p.N318D

c.952A>G

1 paper

NM_007112.5

p.P305delFs

c.914delG

1 paper

NM_007112.5

p.G301V

c.902G>T

1 paper

NM_007112.5

p.R299H

c.896G>A

1 paper

NM_007112.5

p.R285*

c.853C>T

1 paper

NM_007112.5

p.N281ins1

c.842_843insTGA