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

1–12 of 292 variants

3 papers

NM_003247.5

p.D551Splc

c.1652-8C>T

3 papers

NM_003247.5

p.C896R

c.2686T>C

2 papers

NM_003247.5

p.L90delFs

c.270delG

2 papers

NM_003247.5

p.R134Q

c.401G>A

2 papers

NM_003247.5

p.E267K

c.799G>A

2 papers

NM_003247.5

p.S281L

c.842C>T

2 papers

NM_003247.5

p.V395M

c.1183G>A

2 papers

NM_003247.5

p.I493Splc

c.1478-8C>T

2 papers

NM_003247.5

p.R540C

c.1618C>T

2 papers

NM_003247.5

p.G669G

c.2007C>T

2 papers

NM_003247.5

p.C680delFs

c.2039delC

2 papers

NM_003247.5

p.N704S

c.2111A>G