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.G117R

c.349G>C

Surrounding Variants

1 paper

NM_014244.5

p.H121Q

c.363C>G

2 papers

NM_014244.5

p.H121insFs

c.362dupA

1 paper

NM_014244.5

p.H121Q

c.363C>A

1 paper

NM_014244.5

p.P126S

c.376C>T

4 papers

NM_014244.5

p.S107S

c.321T>C

1 paper

NM_014244.5

p.L124_P126del0

c.371_376del6

1 paper

NM_014244.5

p.A128V

c.383C>T

1 paper

NM_014244.5

p.G99_N101del3

c.295_302del9

1 paper

NM_014244.5

p.E102K

c.304G>A

1 paper

NM_014244.5

p.G134G

c.402G>A

1 paper

NM_014244.5

p.G99R

c.295G>C

1 paper

NM_014244.5

p.G99R

c.295G>A