Varaico: Literature-Extracted Genetic Variants

ADAMTS2

284 papers

RefSeq Summary

This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a prop...

Pfam Domains

Pep_M12B_propepaa 58–162UCSCReprolysin family propeptide

Reprolysinaa 266–470UCSCReprolysin (M12B) family zinc metalloprotease

ADAMTS_CR_2aa 482–551UCSCADAMTS cysteine-rich domain 2

TSP_1aa 564–615UCSCThrombospondin type 1 domain

ADAMTS_CR_3aa 620–722UCSCADAMTS cysteine-rich domain

Gene Aliases

HGNC Name

ADAM metallopeptidase with thrombospondin type 1 motif 2

HGNC Alias Symbols

ADAMTS-3; hPCPNI; PCINP; ADAM-TS2; NPI

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014244.5

p.R93insFs

c.277dupC

Surrounding Variants

1 paper

NM_014244.5

p.R93Q

c.278G>A

1 paper

NM_014244.5

p.V92V

c.276C>T

1 paper

NM_014244.5

p.V92I

c.274G>A

1 paper

NM_014244.5

p.P95S

c.283C>T

1 paper

NM_014244.5

p.A90V

c.269C>T

2 papers

NM_014244.5

p.A90T

c.268G>A

1 paper

NM_014244.5

p.R88G

c.262A>G

1 paper

NM_014244.5

p.G99R

c.295G>C

1 paper

NM_014244.5

p.G99R

c.295G>A

2 papers

NM_014244.5

p.R85Q

c.254G>A

1 paper

NM_014244.5

p.E102K

c.304G>A

1 paper

NM_014244.5

p.V84E

c.251T>A