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

11 papers

NM_014244.5

p.P1177S

c.3529C>T

Surrounding Variants

1 paper

NM_014244.5

p.N1178I

c.3533A>T

1 paper

NM_014244.5

p.D1172H

c.3514G>C

1 paper

NM_014244.5

p.P1184L

c.3551C>T

4 papers

NM_014244.5

p.G1169V

c.3506G>T

1 paper

NM_014244.5

p.P1186S

c.3556C>T

1 paper

NM_014244.5

p.Y1187C

c.3560A>G

1 paper

NM_014244.5

p.K1189N

c.3567G>T

1 paper

NM_014244.5

p.K1189N

c.3567G>C

1 paper

NM_014244.5

p.A1160A

c.3480C>A

1 paper

NM_014244.5

p.N1159delFs

c.3476delT

1 paper

NM_014244.5

p.D1200N

c.3598G>A

1 paper

NM_014244.5

p.E1201*

c.3601G>T