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

4 papers

NM_003246.4

p.R1034S

c.3100C>A

Surrounding Variants

1 paper

NM_003246.4

p.R1034G

c.3100C>G

6 papers

NM_003246.4

p.R1034C

c.3100C>T

1 paper

NM_003246.4

p.S1046Y

c.3137C>A

2 papers

NM_003246.4

p.T1053M

c.3158C>T

1 paper

NM_003246.4

p.T1053T

c.3159G>A

1 paper

NM_003246.4

p.D1007E

c.3021C>A

1 paper

NM_003246.4

p.D1007E

c.3021C>G

1 paper

NM_003246.4

p.D1001E

c.3003T>G

1 paper

NM_003246.4

p.D1001A

c.3002A>C

1 paper

NM_003246.4

p.T1070A

c.3208A>G

2 papers

NM_003246.4

p.G1084E

c.3251G>A

2 papers

NM_003246.4

p.Q1089H

c.3267G>C