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.P596L

c.1787C>T

Surrounding Variants

1 paper

NM_003246.4

p.E591_C592Splc

c.1774-1G>T

2 papers

NM_003246.4

p.N601S

c.1802A>G

3 papers

NM_003246.4

p.E605K

c.1813G>A

1 paper

NM_003246.4

p.R607W

c.1819C>T

1 paper

NM_003246.4

p.T611M

c.1832C>T

1 paper

NM_003246.4

p.L618V

c.1852C>G

1 paper

NM_003246.4

p.C620R

c.1858T>C

1 paper

NM_003246.4

p.P622delFs

c.1865delC

1 paper

NM_003246.4

p.P622del1

c.1864_1866delCCA

1 paper

NM_003246.4

p.P622fs

c.1864_1865fs

1 paper

NM_003246.4

p.P622S

c.1864C>T

1 paper

NM_003246.4

p.P622L

c.1865C>T