Varaico: Literature-Extracted Genetic Variants

THBS1

498 papers

RefSeq Summary

The protein encoded by this gene is a subunit of a disulfide-linked homotrimeric protein. This protein is an adhesive glycoprotein that mediates cell-to-cell and cell-to-matrix interactions. This prot...

Pfam Domains

VWCaa 318–372UCSCvon Willebrand factor type C domain

TSP_1aa 383–428UCSCThrombospondin type 1 domain

TSP_1aa 439–489UCSCThrombospondin type 1 domain

TSP_1aa 496–546UCSCThrombospondin type 1 domain

TSP_3aa 727–762UCSCThrombospondin type 3 repeat

TSP_3aa 761–785UCSCThrombospondin type 3 repeat

Gene Aliases

HGNC Name

thrombospondin 1

HGNC Alias Symbols

TSP1; TSP; THBS-1; TSP-1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_003246.4

p.S564N

c.1691G>A

Surrounding Variants

1 paper

NM_003246.4

p.T563A

c.1687A>G

1 paper

NM_003246.4

p.D567V

c.1700A>T

2 papers

NM_003246.4

p.V560M

c.1678G>A

1 paper

NM_003246.4

p.A558T

c.1672G>A

1 paper

NM_003246.4

p.G573A

c.1718G>C

1 paper

NM_003246.4

p.L552L

c.1654C>T

1 paper

NM_003246.4

p.G550A

c.1649G>C

1 paper

NM_003246.4

p.G550*

c.1648G>T

1 paper

NM_003246.4

p.Q585R

c.1754A>G

1 paper

NM_003246.4

p.E591_C592Splc

c.1774-1G>T

1 paper

NM_003246.4

p.P596L

c.1787C>T

2 papers

NM_003246.4

p.N601S

c.1802A>G