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.G399_Y401del3

c.1195_1202del9

Surrounding Variants

1 paper

NM_003248.6

p.Y410F

c.1229A>T

5 papers

NM_003248.6

p.A420V

c.1259C>T

1 paper

NM_003248.6

p.G444E

c.1331G>A

1 paper

NM_003248.6

p.T447A

c.1339A>G

1 paper

NM_003248.6

p.G453S

c.1357G>A

1 paper

NM_003248.6

p.E473K

c.1417G>A

1 paper

NM_003248.6

p.P476T

c.1426C>A

1 paper

NM_003248.6

p.K484_D485Splc

c.1452+16T>G

42 papers

NM_003248.6

p.A387P

c.1159G>C

1 paper

NM_003248.6

p.R384*

c.1150C>T

1 paper

NM_003248.6

p.R500G

c.1498A>G

1 paper

NM_003248.6

p.N528H

c.1582A>C