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.I33S

c.98T>G

Surrounding Variants

1 paper

NM_003246.4

p.D32N

c.94G>A

1 paper

NM_003246.4

p.L36H

c.107T>A

1 paper

NM_003246.4

p.V30delFs

c.90delG

1 paper

NM_003246.4

p.V30delFs

c.89_90delTG

1 paper

NM_003246.4

p.V30_D32delFs

c.88_94del7

1 paper

NM_003246.4

p.T37N

c.110C>A

1 paper

NM_003246.4

p.S29_V30insFs

c.87_88insC

1 paper

NM_003246.4

p.S29_V30delFs

c.87_88delCG

1 paper

NM_003246.4

p.S29Fs

c.85_87delinsTFs

1 paper

NM_003246.4

p.S29_V30delFs

c.85_88del4

1 paper

NM_003246.4

p.N28_V30delFs

c.82_88del7

1 paper

NM_003246.4

p.G26R

c.76G>A