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.N318D

c.952A>G

Surrounding Variants

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

3 papers

NM_007112.5

p.S279G

c.835A>G

1 paper

NM_007112.5

p.R275H

c.824G>A

1 paper

NM_007112.5

p.E265Q

c.793G>C

1 paper

NM_007112.5

p.R260*

c.778C>T

1 paper

NM_007112.5

p.V253L

c.757G>T

1 paper

NM_007112.5

p.D251H

c.751G>C

1 paper

NM_007112.5

p.R250*

c.748C>T