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.P745S

c.2233C>T

Surrounding Variants

1 paper

NM_014244.5

p.P745delFs

c.2234delG

3 papers

NM_014244.5

p.I744V

c.2230A>G

1 paper

NM_014244.5

p.F742_G747del6

c.2224_2240del18

1 paper

NM_014244.5

p.V756A

c.2267T>C

2 papers

NM_014244.5

p.A758T

c.2272G>A

1 paper

NM_014244.5

p.R731W

c.2191C>T

1 paper

NM_014244.5

p.K726N

c.2178G>T

1 paper

NM_014244.5

p.K726N

c.2178G>C

1 paper

NM_014244.5

p.C722_K723insC

c.2164_2168ins3

1 paper

NM_014244.5

p.V714L

c.2140G>T

1 paper

NM_014244.5

p.V714L

c.2140G>C

1 paper

NM_014244.5

p.V714M

c.2140G>A