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.G47fs

c.139_140fs

Surrounding Variants

1 paper

NM_003247.5

p.R46R

c.138C>T

1 paper

NM_003247.5

p.G47_P48delFs

c.141_142delGC

1 paper

NM_003247.5

p.G47_G51delFs

c.139_152del14

1 paper

NM_003247.5

p.A54T

c.160G>A

1 paper

NM_003247.5

p.I35T

c.104T>C

1 paper

NM_003247.5

p.N34_I35delFs

c.100_103del4

1 paper

NM_003247.5

p.R59C

c.175C>T

1 paper

NM_003247.5

p.S33I

c.98G>T

1 paper

NM_003247.5

p.S33N

c.98G>A

1 paper

NM_003247.5

p.P65P

c.195G>A

1 paper

NM_003247.5

p.F27F

c.81C>T

1 paper

NM_003247.5

p.A18_T25del0

c.53_73del21