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.Y676*

c.2028C>A

Surrounding Variants

1 paper

NM_003247.5

p.Y676delFs

c.2026delA

1 paper

NM_003247.5

p.P674S

c.2020C>T

1 paper

NM_003247.5

p.C680Y

c.2039G>A

2 papers

NM_003247.5

p.C680delFs

c.2039delC

1 paper

NM_003247.5

p.Q681Q

c.2043G>A

2 papers

NM_003247.5

p.G669G

c.2007C>T

1 paper

NM_003247.5

p.D687insFs

c.2059_2060insT

1 paper

NM_003247.5

p.A663V

c.1988C>T

1 paper

NM_003247.5

p.H662delFs

c.1984delG

1 paper

NM_003247.5

p.E693delFs

c.2078_2079delCT

1 paper

NM_003247.5

p.E693_D694del2

c.2077_2081del6

1 paper

NM_003247.5

p.S695delFs

c.2084delG