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

2 papers

NM_007112.5

p.R955G

c.2863A>G

Surrounding Variants

1 paper

NM_007112.5

p.F922L

c.2766C>G

1 paper

NM_007112.5

p.F922L

c.2766C>A

1 paper

NM_007112.5

p.F922V

c.2764T>G

1 paper

NM_007112.5

p.F922L

c.2764T>C

1 paper

NM_007112.5

p.R916fs

c.2746_2747fs

1 paper

NM_007112.5

p.R916H

c.2747G>A

1 paper

NM_007112.5

p.G914W

c.2740G>T

1 paper

NM_007112.5

p.R891P

c.2672G>C

1 paper

NM_007112.5

p.R891Q

c.2672G>A

1 paper

NM_007112.5

p.R891P

c.2672G>C

1 paper

NM_007112.5

p.R884Q

c.2651G>A

1 paper

NM_007112.5

p.A824V

c.2471C>T