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.C542F

c.1625G>T

Surrounding Variants

1 paper

NM_007112.5

p.D531V

c.1592A>T

1 paper

NM_007112.5

p.D554N

c.1660G>A

1 paper

NM_007112.5

p.D526H

c.1576G>C

2 papers

NM_007112.5

p.R520Q

c.1559G>A

2 papers

NM_007112.5

p.R520W

c.1558C>T

1 paper

NM_007112.5

p.G568R

c.1702G>C

1 paper

NM_007112.5

p.G568R

c.1702G>A

1 paper

NM_007112.5

p.E516_D517Splc

c.1549-9T>C

1 paper

NM_007112.5

p.G490R

c.1468G>A

2 papers

NM_007112.5

p.D590N

c.1768G>A

1 paper

NM_007112.5

p.D590E

c.1770T>G

1 paper

NM_007112.5

p.D590E

c.1770T>A