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.R79W

c.235C>T

Surrounding Variants

1 paper

NM_003247.5

p.K76N

c.228G>T

1 paper

NM_003247.5

p.E82A

c.245A>C

1 paper

NM_003247.5

p.Y62_K73del12

c.184_218del36

1 paper

NM_003247.5

p.L71_S72delFs

c.213_214delTG

1 paper

NM_003247.5

p.V66_N67del2

c.196_200del6

1 paper

NM_003247.5

p.Q89_L90Fs

c.266_270delinsCTTFs

1 paper

NM_003247.5

p.L90insFs

c.270dupC

2 papers

NM_003247.5

p.L90delFs

c.270delG

1 paper

NM_003247.5

p.P65P

c.195G>A

1 paper

NM_003247.5

p.S96Y

c.287C>A

1 paper

NM_003247.5

p.R97delFs

c.291delC

1 paper

NM_003247.5

p.R59C

c.175C>T