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.S784I

c.2351G>T

Surrounding Variants

1 paper

NM_014244.5

p.S785F

c.2354C>T

7 papers

NM_014244.5

p.W795*

c.2384G>A

6 papers

NM_014244.5

p.W795*

c.2385G>A

1 paper

NM_014244.5

p.Y797S

c.2390A>C

1 paper

NM_014244.5

p.D801D

c.2403C>T

1 paper

NM_014244.5

p.G802S

c.2404G>A

2 papers

NM_014244.5

p.T805M

c.2414C>T

1 paper

NM_014244.5

p.G814S

c.2440G>A

1 paper

NM_014244.5

p.V818fs

c.2452_2453fs

1 paper

NM_014244.5

p.A764Splc

c.2291-123G>A

1 paper

NM_014244.5

p.G824R

c.2470G>C

1 paper

NM_014244.5

p.G824R

c.2470G>A