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.D901G

c.2702A>G

Surrounding Variants

3 papers

NM_003247.5

p.C896R

c.2686T>C

2 papers

NM_003247.5

p.D907N

c.2719G>A

2 papers

NM_003247.5

p.A895T

c.2683G>A

1 paper

NM_003247.5

p.D894D

c.2682C>T

1 paper

NM_003247.5

p.D894insFs

c.2681dupA

1 paper

NM_003247.5

p.D910insFs

c.2729dupA

1 paper

NM_003247.5

p.G891S

c.2671G>A

1 paper

NM_003247.5

p.N911insFs

c.2731dupA

1 paper

NM_003247.5

p.C912G

c.2734T>G

1 paper

NM_003247.5

p.R913P

c.2738G>C

1 paper

NM_003247.5

p.R889K

c.2666G>A

1 paper

NM_003247.5

p.V915M

c.2743G>A