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.G364A

c.1091G>C

Surrounding Variants

1 paper

NM_003248.6

p.Q363R

c.1088A>G

1 paper

NM_003248.6

p.C353Y

c.1058G>A

1 paper

NM_003248.6

p.G307D

c.920G>A

1 paper

NM_003248.6

p.D306H

c.916G>C

1 paper

NM_003248.6

p.D291N

c.871G>A

1 paper

NM_003248.6

p.P282L

c.845C>T

1 paper

NM_003248.6

p.P277fs

c.829_830fs

1 paper

NM_003248.6

p.T273M

c.818C>T

1 paper

NM_003248.6

p.G262D

c.785G>A

1 paper

NM_003248.6

p.C258*

c.774C>A

1 paper

NM_003248.6

p.V245A

c.734T>C

1 paper

NM_003248.6

p.M227V

c.679A>G