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.I493_D494del1

c.1478_1480delCGA

Surrounding Variants

1 paper

NM_003247.5

p.D494fs

c.1480_1481fs

1 paper

NM_003247.5

p.G495_R496delFs

c.1485_1486delGG

1 paper

NM_003247.5

p.D494_R496delFs

c.1482_1486del5

2 papers

NM_003247.5

p.I493Splc

c.1478-8C>T

1 paper

NM_003247.5

p.W497delFs

c.1491delC

1 paper

NM_003247.5

p.W500delFs

c.1499delC

1 paper

NM_003247.5

p.P502P

c.1506G>A

1 paper

NM_003247.5

p.C506*

c.1518C>A

1 paper

NM_003247.5

p.V508insFs

c.1522dupG

1 paper

NM_003247.5

p.T509delFs

c.1526delG

1 paper

NM_003247.5

p.G513delFs

c.1538_1539delCC

1 paper

NM_003247.5

p.R515delFs

c.1544delC