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.D111N

c.331G>A

Surrounding Variants

1 paper

NM_003246.4

p.D111G

c.332A>G

1 paper

NM_003246.4

p.H112H

c.336C>T

1 paper

NM_003246.4

p.V116V

c.348C>A

1 paper

NM_003246.4

p.V116V

c.348C>G

1 paper

NM_003246.4

p.T103M

c.308C>T

1 paper

NM_003246.4

p.V120V

c.360G>A

1 paper

NM_003246.4

p.S121T

c.361T>A

1 paper

NM_003246.4

p.K98M

c.293A>T

1 paper

NM_003246.4

p.A125T

c.373G>A

1 paper

NM_003246.4

p.Q96delFs

c.287_288delAG

1 paper

NM_003246.4

p.G126C

c.376G>T

1 paper

NM_003246.4

p.T127I

c.380C>T