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.R1133W

c.3397C>T

Surrounding Variants

1 paper

NM_014244.5

p.T1138S

c.3412A>T

1 paper

NM_014244.5

p.T1138S

c.3413C>G

1 paper

NM_014244.5

p.L1140P

c.3419T>C

2 papers

NM_014244.5

p.L1140fs

c.3418_3419fs

1 paper

NM_014244.5

p.L1144F

c.3430C>T

1 paper

NM_014244.5

p.D1115N

c.3343G>A

1 paper

NM_014244.5

p.H1113H

c.3339C>T

1 paper

NM_014244.5

p.H1113Q

c.3339C>G

1 paper

NM_014244.5

p.H1113Q

c.3339C>A

3 papers

NM_014244.5

p.P1110A

c.3328C>G

1 paper

NM_014244.5

p.N1159delFs

c.3476delT

1 paper

NM_014244.5

p.A1160A

c.3480C>A