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.E140K

c.418G>A

Surrounding Variants

1 paper

NM_003247.5

p.D141_V142del2

c.421_425del6

1 paper

NM_003247.5

p.V136G

c.407T>G

2 papers

NM_003247.5

p.R134Q

c.401G>A

1 paper

NM_003247.5

p.T133S

c.398C>G

1 paper

NM_003247.5

p.T133S

c.397A>T

1 paper

NM_003247.5

p.L139_V152del14

c.415_455del42

1 paper

NM_003247.5

p.P120S

c.358C>T

1 paper

NM_003247.5

p.I115I

c.345C>T

1 paper

NM_003247.5

p.E114K

c.340G>A

1 paper

NM_003247.5

p.F113insFs

c.337dupT

1 paper

NM_003247.5

p.C167*

c.501C>A

1 paper

NM_003247.5

p.S172S

c.516C>T