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.Q209insFs

c.625_626insTG

Surrounding Variants

1 paper

NM_003246.4

p.F208_Q209insFs

c.624_625insA

1 paper

NM_003246.4

p.Q209_G210Splc

c.627+1G>A

1 paper

NM_003246.4

p.F208_Q209insA

c.622_626ins3

1 paper

NM_003246.4

p.R198H

c.593G>A

1 paper

NM_003246.4

p.R198S

c.592C>A

1 paper

NM_003246.4

p.R198C

c.592C>T

2 papers

NM_003246.4

p.R196S

c.588A>C

2 papers

NM_003246.4

p.R196S

c.588A>T

1 paper

NM_003246.4

p.R196I

c.587G>T

1 paper

NM_003246.4

p.A195T

c.583G>A

1 paper

NM_003246.4

p.L191L

c.573G>A

1 paper

NM_003246.4

p.D180_V181delFs

c.539_543del5