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.R412Q

c.1235G>A

Surrounding Variants

1 paper

NM_003246.4

p.N410S

c.1229A>G

1 paper

NM_003246.4

p.S417L

c.1250C>T

1 paper

NM_003246.4

p.V418delFs

c.1253delT

1 paper

NM_003246.4

p.R421W

c.1261C>T

2 papers

NM_003246.4

p.R421Q

c.1262G>A

1 paper

NM_003246.4

p.G398G

c.1194A>C

1 paper

NM_003246.4

p.G398R

c.1192G>A

1 paper

NM_003246.4

p.E427K

c.1279G>A

1 paper

NM_003246.4

p.C395C

c.1185T>C

3 papers

NM_003246.4

p.K430K

c.1290G>A

1 paper

NM_003246.4

p.T393M

c.1178C>T

1 paper

NM_003246.4

p.S392F

c.1175C>T