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.E166G

c.497A>G

Surrounding Variants

1 paper

NM_014244.5

p.E166A

c.497A>C

1 paper

NM_014244.5

p.E166D

c.498A>T

1 paper

NM_014244.5

p.E166D

c.498A>C

1 paper

NM_014244.5

p.V161_L164del0

c.483_491del9

1 paper

NM_014244.5

p.A162V

c.485C>T

1 paper

NM_014244.5

p.C155_D160delFs

c.464_480del17

1 paper

NM_014244.5

p.L172_S173insC

c.514_518ins3

1 paper

NM_014244.5

p.D160Fs

c.478delinsTCCFs

1 paper

NM_014244.5

p.L172L

c.516C>T

1 paper

NM_014244.5

p.S173G

c.517A>G

1 paper

NM_014244.5

p.G177E

c.530G>A

1 paper

NM_014244.5

p.C155insFs

c.463_464insC