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

1 paper

NM_003246.4

p.D901E

c.2703T>G

Surrounding Variants

1 paper

NM_003246.4

p.D901E

c.2703T>A

1 paper

NM_003246.4

p.D901G

c.2702A>G

2 papers

NM_003246.4

p.D899G

c.2696A>G

1 paper

NM_003246.4

p.A893G

c.2678C>G

1 paper

NM_003246.4

p.G889V

c.2666G>T

1 paper

NM_003246.4

p.P916L

c.2747C>T

1 paper

NM_003246.4

p.H885Y

c.2653C>T

6 papers

NM_003246.4

p.Q882H

c.2646G>C

6 papers

NM_003246.4

p.Q882H

c.2646G>T

1 paper

NM_003246.4

p.Y876D

c.2626T>G

1 paper

NM_003246.4

p.N870S

c.2609A>G

2 papers

NM_003246.4

p.Q860K

c.2578C>A