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

1–12 of 334 variants

54 papers

NM_003246.4

p.N700S

c.2099A>G

10 papers

NM_003246.4

p.T523A

c.1567A>G

6 papers

NM_003246.4

p.Q882H

c.2646G>C

6 papers

NM_003246.4

p.Q882H

c.2646G>T

6 papers

NM_003246.4

p.R1034C

c.3100C>T

5 papers

NM_003246.4

p.S564N

c.1691G>A

4 papers

NM_003246.4

p.R1034S

c.3100C>A

3 papers

NM_003246.4

p.S24A

c.70T>G

3 papers

NM_003246.4

p.I33S

c.98T>G

3 papers

NM_003246.4

p.K430K

c.1290G>A

3 papers

NM_003246.4

p.N470N

c.1410C>T

3 papers

NM_003246.4

p.E605K

c.1813G>A