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

54 papers

NM_003246.4

p.N700S

c.2099A>G

Surrounding Variants

1 paper

NM_003246.4

p.E701K

c.2101G>A

1 paper

NM_003246.4

p.N702S

c.2105A>G

1 paper

NM_003246.4

p.L703L

c.2107C>T

1 paper

NM_003246.4

p.D694H

c.2080G>C

2 papers

NM_003246.4

p.N708K

c.2124T>A

2 papers

NM_003246.4

p.N708K

c.2124T>G

1 paper

NM_003246.4

p.A709A

c.2127G>A

3 papers

NM_003246.4

p.G690R

c.2068G>A

3 papers

NM_003246.4

p.G690R

c.2068G>C

1 paper

NM_003246.4

p.C678Y

c.2033G>A

1 paper

NM_003246.4

p.C676C

c.2028C>T

1 paper

NM_003246.4

p.R675H

c.2024G>A