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

2 papers

NM_003247.5

p.N704S

c.2111A>G

Surrounding Variants

1 paper

NM_003247.5

p.N702K

c.2106C>A

1 paper

NM_003247.5

p.N702S

c.2105A>G

1 paper

NM_003247.5

p.A708T

c.2122G>A

1 paper

NM_003247.5

p.A708_T709delFs

c.2122_2125del4

1 paper

NM_003247.5

p.L697P

c.2090T>C

1 paper

NM_003247.5

p.D694_D696insFs

c.2080_2087dup8

1 paper

NM_003247.5

p.T712N

c.2135C>A

1 paper

NM_003247.5

p.S695delFs

c.2084delG

1 paper

NM_003247.5

p.E693_D694del2

c.2077_2081del6

1 paper

NM_003247.5

p.E693delFs

c.2078_2079delCT

1 paper

NM_003247.5

p.D687insFs

c.2059_2060insT

1 paper

NM_003247.5

p.Q681Q

c.2043G>A