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.G583delFs

c.1747delC

Surrounding Variants

1 paper

NM_003247.5

p.D590N

c.1768G>A

1 paper

NM_003247.5

p.E593_C594Splc

c.1779+1G>A

1 paper

NM_003247.5

p.S571_W572delFs

c.1713_1714delAG

1 paper

NM_003247.5

p.S571insFs

c.1713dupC

1 paper

NM_003247.5

p.S571delFs

c.1713delG

1 paper

NM_003247.5

p.C564Y

c.1691G>A

1 paper

NM_003247.5

p.P560delFs

c.1678delG

1 paper

NM_003247.5

p.N556I

c.1667A>T

3 papers

NM_003247.5

p.D551Splc

c.1652-8C>T

1 paper

NM_003247.5

p.P598_D599delFs

c.1794_1797del4

1 paper

NM_003247.5

p.C601delFs

c.1802delC

1 paper

NM_003247.5

p.P608S

c.1822C>T