Varaico: Literature-Extracted Genetic Variants

THBS2

160 papers

RefSeq Summary

The protein encoded by this gene belongs to the thrombospondin family. It is a disulfide-linked homotrimeric glycoprotein that mediates cell-to-cell and cell-to-matrix interactions. This protein has b...

Pfam Domains

VWCaa 320–374UCSCvon Willebrand factor type C domain

TSP_1aa 385–430UCSCThrombospondin type 1 domain

TSP_1aa 441–491UCSCThrombospondin type 1 domain

TSP_1aa 498–548UCSCThrombospondin type 1 domain

EGF_3aa 652–691UCSCEGF domain

TSP_3aa 729–764UCSCThrombospondin type 3 repeat

Gene Aliases

HGNC Name

thrombospondin 2

HGNC Alias Symbol

TSP2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003247.5

p.S259S

c.777G>A

Surrounding Variants

1 paper

NM_003247.5

p.Y254H

c.760T>C

1 paper

NM_003247.5

p.C266Y

c.797G>A

2 papers

NM_003247.5

p.E267K

c.799G>A

1 paper

NM_003247.5

p.T252A

c.754A>G

1 paper

NM_003247.5

p.R268R

c.804C>A

1 paper

NM_003247.5

p.G247_H249delFs

c.739_746del8

1 paper

NM_003247.5

p.L244R

c.731T>G

1 paper

NM_003247.5

p.E239K

c.715G>A

2 papers

NM_003247.5

p.S281L

c.842C>T

1 paper

NM_003247.5

p.L280insFs

c.838_839dupCT

1 paper

NM_003247.5

p.A236T

c.706G>A

1 paper

NM_003247.5

p.N235N

c.705C>T