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.T124T

c.372A>G

Surrounding Variants

1 paper

NM_007112.5

p.R121H

c.362G>A

1 paper

NM_007112.5

p.A115V

c.344C>T

1 paper

NM_007112.5

p.P135L

c.404C>T

1 paper

NM_007112.5

p.K106N

c.318A>T

1 paper

NM_007112.5

p.K106N

c.318A>C

6 papers

NM_007112.5

p.R102Q

c.305G>A

1 paper

NM_007112.5

p.R99Q

c.296G>A

1 paper

NM_007112.5

p.A158V

c.473C>T

1 paper

NM_007112.5

p.P161S

c.481C>T

1 paper

NM_007112.5

p.L168L

c.502C>T

1 paper

NM_007112.5

p.G192fs

c.574_575fs

1 paper

NM_007112.5

p.G192delFs

c.575delC