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.P45S

c.133C>T

Surrounding Variants

1 paper

NM_014244.5

p.P46fs

c.136_137fs

2 papers

NM_014244.5

p.P46delFs

c.137delG

1 paper

NM_014244.5

p.A42insFs

c.124_125ins28

1 paper

NM_014244.5

p.L39L

c.117C>G

1 paper

NM_014244.5

p.N36H

c.106A>C

1 paper

NM_014244.5

p.P34del1

c.100_101delGGG

2 papers

NM_014244.5

p.P33_P34del1

c.99_101delGGC

1 paper

NM_014244.5

p.P32S

c.94C>T

1 paper

NM_014244.5

p.L27_P30ins1

c.80_88dup9

1 paper

NM_014244.5

p.P26_L27ins0

c.77_79dupCGC

1 paper

NM_014244.5

p.L23_P24del2

c.67_71del6

1 paper

NM_014244.5

p.P24L

c.71C>T