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.D780Y

c.2338G>T

Surrounding Variants

1 paper

NM_003248.6

p.G772V

c.2315G>T

1 paper

NM_003248.6

p.A823V

c.2468C>T

1 paper

NM_003248.6

p.R850W

c.2548C>T

1 paper

NM_003248.6

p.P748H

c.2243C>A

1 paper

NM_003248.6

p.V737I

c.2209G>A

1 paper

NM_003248.6

p.V737delFs

c.2210delT

2 papers

NM_003248.6

p.R882C

c.2644C>T

1 paper

NM_003248.6

p.D717D

c.2151C>T

1 paper

NM_003248.6

p.P889L

c.2666C>T

1 paper

NM_003248.6

p.D714N

c.2140G>A

1 paper

NM_003248.6

p.G698R

c.2092G>A

1 paper

NM_003248.6

p.G698R

c.2092G>C