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.L89_L90del2

c.265_269del6

Surrounding Variants

1 paper

NM_003246.4

p.F88_L94del7

c.262_281del21

1 paper

NM_003246.4

p.L90F

c.268C>T

1 paper

NM_003246.4

p.G87A

c.260G>C

1 paper

NM_003246.4

p.G87_F88insC

c.259_263ins3

1 paper

NM_003246.4

p.G87_F88del2

c.259_263del6

1 paper

NM_003246.4

p.E85Q

c.253G>C

1 paper

NM_003246.4

p.E85_F88del4

c.253_263del12

1 paper

NM_003246.4

p.R83Q

c.248G>A

1 paper

NM_003246.4

p.V82A

c.245T>C

1 paper

NM_003246.4

p.V82_F88del7

c.244_263del21

1 paper

NM_003246.4

p.A81G

c.242C>G

1 paper

NM_003246.4

p.Q96delFs

c.287_288delAG