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

3 papers

NM_014244.5

p.R255Q

c.764G>A

Surrounding Variants

1 paper

NM_014244.5

p.R254R

c.762G>A

1 paper

NM_014244.5

p.R256W

c.766A>T

1 paper

NM_014244.5

p.S252R

c.756C>G

1 paper

NM_014244.5

p.S252R

c.756C>A

1 paper

NM_014244.5

p.S252R

c.754A>C

1 paper

NM_014244.5

p.R259R

c.777G>A

1 paper

NM_014244.5

p.A250D

c.749C>A

1 paper

NM_014244.5

p.E248_H249del0

c.742_747del6

1 paper

NM_014244.5

p.H260P

c.779A>C

1 paper

NM_014244.5

p.A250T

c.748G>A

2 papers

NM_014244.5

p.A262A

c.786G>A

6 papers

NM_014244.5

p.V245I

c.733G>A