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.D623N

c.1867G>A

Surrounding Variants

1 paper

NM_003248.6

p.D626D

c.1878C>T

1 paper

NM_003248.6

p.C605delFs

c.1815delT

1 paper

NM_003248.6

p.C605fs

c.1813_1814fs

1 paper

NM_003248.6

p.K593Q

c.1777A>C

2 papers

NM_003248.6

p.R591W

c.1771C>T

1 paper

NM_003248.6

p.R588C

c.1762C>T

1 paper

NM_003248.6

p.N581S

c.1742A>G

1 paper

NM_003248.6

p.D560G

c.1679A>G

1 paper

NM_003248.6

p.D558E

c.1674T>A

1 paper

NM_003248.6

p.D558E

c.1674T>G

1 paper

NM_003248.6

p.D558fs

c.1672_1673fs

1 paper

NM_003248.6

p.D553N

c.1657G>A