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.V848A

c.2543T>C

Surrounding Variants

1 paper

NM_014244.5

p.V848I

c.2542G>A

1 paper

NM_014244.5

p.Y856H

c.2566T>C

1 paper

NM_014244.5

p.E857D

c.2571G>T

1 paper

NM_014244.5

p.E857D

c.2571G>C

1 paper

NM_014244.5

p.Y834F

c.2501A>T

1 paper

NM_014244.5

p.S829_T831del3

c.2485_2492del9

1 paper

NM_014244.5

p.T831M

c.2492C>T

1 paper

NM_014244.5

p.S829L

c.2486C>T

3 papers

NM_014244.5

p.R827Q

c.2480G>A

1 paper

NM_014244.5

p.C870F

c.2609G>T

1 paper

NM_014244.5

p.G872R

c.2614G>C

1 paper

NM_014244.5

p.G872R

c.2614G>A