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

3 papers

NM_003246.4

p.N470N

c.1410C>T

Surrounding Variants

1 paper

NM_003246.4

p.P465L

c.1394C>T

1 paper

NM_003246.4

p.R460W

c.1378C>T

1 paper

NM_003246.4

p.A483_A488del0

c.1449_1463del15

1 paper

NM_003246.4

p.D487H

c.1459G>C

1 paper

NM_003246.4

p.G454C

c.1360G>T

1 paper

NM_003246.4

p.P490delFs

c.1470delC

1 paper

NM_003246.4

p.P443P

c.1329G>A

1 paper

NM_003246.4

p.W438R

c.1312T>C

1 paper

NM_003246.4

p.G437V

c.1310G>T

1 paper

NM_003246.4

p.G437delFs

c.1309delG

1 paper

NM_003246.4

p.K433T

c.1298A>C

1 paper

NM_003246.4

p.I491fs

c.1471_1472fs