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.F179S

c.536T>C

Surrounding Variants

1 paper

NM_003247.5

p.F173_A174insFs

c.518_521dup4

1 paper

NM_003247.5

p.L175V

c.523C>G

1 paper

NM_003247.5

p.Q184*

c.550C>T

1 paper

NM_003247.5

p.A174T

c.520G>A

1 paper

NM_003247.5

p.S172S

c.516C>T

1 paper

NM_003247.5

p.C167*

c.501C>A

1 paper

NM_003247.5

p.A193fs

c.577_578fs

1 paper

NM_003247.5

p.A193delFs

c.577delC

1 paper

NM_003247.5

p.K194insFs

c.582dupA

1 paper

NM_003247.5

p.G195fs

c.583_584fs

1 paper

NM_003247.5

p.G195A

c.584G>C

1 paper

NM_003247.5

p.H201Y

c.601C>T