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.G738D

c.2213G>A

Surrounding Variants

1 paper

NM_007112.5

p.P716S

c.2146C>T

1 paper

NM_007112.5

p.D710E

c.2130C>G

1 paper

NM_007112.5

p.D710E

c.2130C>A

1 paper

NM_007112.5

p.D701E

c.2103T>G

1 paper

NM_007112.5

p.D701E

c.2103T>A

2 papers

NM_007112.5

p.D701N

c.2101G>A

1 paper

NM_007112.5

p.G764D

c.2291G>A

1 paper

NM_007112.5

p.K688del1

c.2062_2063delCTT

1 paper

NM_007112.5

p.L681L

c.2043G>T

1 paper

NM_007112.5

p.C679delFs

c.2035_2036delCA

1 paper

NM_007112.5

p.P674A

c.2020C>G

1 paper

NM_007112.5

p.V672M

c.2014G>A