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.G51insFs

c.151_152insC

Surrounding Variants

1 paper

NM_003246.4

p.P52S

c.154C>T

1 paper

NM_003246.4

p.P52P

c.156C>A

1 paper

NM_003246.4

p.P52P

c.156C>T

1 paper

NM_003246.4

p.L48V

c.142C>G

1 paper

NM_003246.4

p.P54A

c.160C>G

1 paper

NM_003246.4

p.R46H

c.137G>A

1 paper

NM_003246.4

p.S56R

c.168C>A

1 paper

NM_003246.4

p.K42N

c.126G>C

1 paper

NM_003246.4

p.K42M

c.125A>T

1 paper

NM_003246.4

p.D63insFs

c.187_188ins5

1 paper

NM_003246.4

p.D63E

c.189T>G

1 paper

NM_003246.4

p.T37N

c.110C>A