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.R207H

c.620G>A

Surrounding Variants

1 paper

NM_014244.5

p.R207C

c.619C>T

1 paper

NM_014244.5

p.R207insFs

c.621dupT

1 paper

NM_014244.5

p.G206G

c.618C>A

1 paper

NM_014244.5

p.R207_V208del1

c.621_623delACA

1 paper

NM_014244.5

p.E204_Q205delFs

c.610_613del4

1 paper

NM_014244.5

p.E204fs

c.610_611fs

2 papers

NM_014244.5

p.E204Q

c.610G>C

1 paper

NM_014244.5

p.E204fs

c.610_611fs

1 paper

NM_014244.5

p.E202*

c.604G>T

2 papers

NM_014244.5

p.R213P

c.638G>C

1 paper

NM_014244.5

p.R214Q

c.641G>A

1 paper

NM_014244.5

p.A199V

c.596C>T