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.I35T

c.104T>C

Surrounding Variants

1 paper

NM_003247.5

p.N34_I35delFs

c.100_103del4

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.F27F

c.81C>T

1 paper

NM_003247.5

p.A18_T25del0

c.53_73del21

1 paper

NM_003247.5

p.Q21_T25del0

c.62_73del12

1 paper

NM_003247.5

p.D24delFs

c.70delC

1 paper

NM_003247.5

p.D24Y

c.70G>T

1 paper

NM_003247.5

p.R46R

c.138C>T

1 paper

NM_003247.5

p.G47fs

c.139_140fs

1 paper

NM_003247.5

p.D22_K23delFs

c.66_67delTG

1 paper

NM_003247.5

p.G47_P48delFs

c.141_142delGC