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.S449F

c.1346C>T

Surrounding Variants

2 papers

NM_014244.5

p.R450H

c.1349G>A

1 paper

NM_014244.5

p.Q440Q

c.1320G>A

1 paper

NM_014244.5

p.R458L

c.1373G>T

1 paper

NM_014244.5

p.G432S

c.1294G>A

1 paper

NM_014244.5

p.E428K

c.1282G>A

1 paper

NM_014244.5

p.G426G

c.1278C>T

1 paper

NM_014244.5

p.R424C

c.1270C>T

1 paper

NM_014244.5

p.H461Splc

c.1383-16C>T

1 paper

NM_014244.5

p.S462_Y463insFs

c.1386_1387ins8

1 paper

NM_014244.5

p.D464Y

c.1390G>T

1 paper

NM_014244.5

p.C465Y

c.1394G>A

1 paper

NM_014244.5

p.L466delFs

c.1398delC