Varaico: Literature-Extracted Genetic Variants

THBS4

138 papers

RefSeq Summary

The protein encoded by this gene belongs to the thrombospondin protein family. Thrombospondin family members are adhesive glycoproteins that mediate cell-to-cell and cell-to-matrix interactions. This ...

Pfam Domains

COMPaa 127–171UCSCCartilage oligomeric matrix protein

EGFaa 333–367UCSCEGF-like domain

TSP_3aa 405–440UCSCThrombospondin type 3 repeat

TSP_3aa 464–499UCSCThrombospondin type 3 repeat

TSP_3aa 499–522UCSCThrombospondin type 3 repeat

TSP_3aa 523–560UCSCThrombospondin type 3 repeat

Gene Aliases

HGNC Name

thrombospondin 4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003248.6

p.G137E

c.410G>A

Surrounding Variants

1 paper

NM_003248.6

p.L141_P157delFs

c.422_470del49

1 paper

NM_003248.6

p.N133_L134del1

c.399_401delTTT

1 paper

NM_003248.6

p.L141L

c.423A>G

1 paper

NM_003248.6

p.N133_L134del2

c.397_401del6

3 papers

NM_003248.6

p.G122R

c.364G>A

3 papers

NM_003248.6

p.G122R

c.364G>C

1 paper

NM_003248.6

p.N116Y

c.346A>T

1 paper

NM_003248.6

p.V113I

c.337G>A

1 paper

NM_003248.6

p.L103V

c.307C>G

1 paper

NM_003248.6

p.Y102*

c.306C>G

1 paper

NM_003248.6

p.I99V

c.295A>G

1 paper

NM_003248.6

p.A98Splc

c.293-11C>G