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

10 papers

NM_003246.4

p.T523A

c.1567A>G

Surrounding Variants

1 paper

NM_003246.4

p.T523I

c.1568C>T

2 papers

NM_003246.4

p.N521N

c.1563C>T

1 paper

NM_003246.4

p.C519G

c.1555T>G

1 paper

NM_003246.4

p.R517H

c.1550G>A

1 paper

NM_003246.4

p.Q513H

c.1539G>C

1 paper

NM_003246.4

p.Q513H

c.1539G>T

1 paper

NM_003246.4

p.V512A

c.1535T>C

1 paper

NM_003246.4

p.G511A

c.1532G>C

1 paper

NM_003246.4

p.G510E

c.1529G>A

1 paper

NM_003246.4

p.Q539_K543del5

c.1615_1628del15

1 paper

NM_003246.4

p.Q539*

c.1615C>T

1 paper

NM_003246.4

p.Q539_K543del0

c.1616_1627del12