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.S235fs

c.703_704fs

Surrounding Variants

1 paper

NM_014244.5

p.S235fs

c.703_704fs

1 paper

NM_014244.5

p.L233insFs

c.698dupT

1 paper

NM_014244.5

p.D237Y

c.709G>T

2 papers

NM_014244.5

p.D237A

c.710A>C

1 paper

NM_014244.5

p.A231delFs

c.691delC

2 papers

NM_014244.5

p.R241C

c.721C>T

1 paper

NM_014244.5

p.R241L

c.722G>T

1 paper

NM_014244.5

p.R241insFs

c.722_723insC

4 papers

NM_014244.5

p.R241H

c.722G>A

2 papers

NM_014244.5

p.A242T

c.724G>A

6 papers

NM_014244.5

p.V245I

c.733G>A

1 paper

NM_014244.5

p.A250T

c.748G>A