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.S880delFs

c.2639_2640delGG

Surrounding Variants

1 paper

NM_003247.5

p.A882T

c.2644G>A

1 paper

NM_003247.5

p.I879V

c.2635A>G

1 paper

NM_003247.5

p.R889K

c.2666G>A

1 paper

NM_003247.5

p.N871delins

c.2611_2612delinsTG

1 paper

NM_003247.5

p.G891S

c.2671G>A

1 paper

NM_003247.5

p.H869delFs

c.2606_2607delGT

2 papers

NM_003247.5

p.D867insFs

c.2601dupC

1 paper

NM_003247.5

p.D867insFs

c.2600_2601dupAC

1 paper

NM_003247.5

p.D867D

c.2601C>T

1 paper

NM_003247.5

p.D894D

c.2682C>T

1 paper

NM_003247.5

p.D894insFs

c.2681dupA

2 papers

NM_003247.5

p.A895T

c.2683G>A