Varaico: Literature-Extracted Genetic Variants

ADAMTS9

193 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 49–157UCSCReprolysin family propeptide

Reprolysinaa 293–499UCSCReprolysin (M12B) family zinc metalloprotease

ADAMTS_CR_2aa 511–578UCSCADAMTS cysteine-rich domain 2

TSP_1aa 590–642UCSCThrombospondin type 1 domain

ADAMTS_CR_3aa 645–752UCSCADAMTS cysteine-rich domain

ADAMTS_spacer1aa 754–871UCSCADAM-TS Spacer 1

Gene Aliases

HGNC Name

ADAM metallopeptidase with thrombospondin type 1 motif 9

HGNC Alias Symbol

KIAA1312

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_182920.2

p.A115V

c.344C>T

Surrounding Variants

1 paper

NM_182920.2

p.A117T

c.349G>A

1 paper

NM_182920.2

p.F119Y

c.356T>A

1 paper

NM_182920.2

p.Q97_Q107delFs

c.291_319del29

1 paper

NM_182920.2

p.F124_T125insFs

c.372_373insGT

1 paper

NM_182920.2

p.L102F

c.304C>T

1 paper

NM_182920.2

p.Y100S

c.299A>C

1 paper

NM_182920.2

p.A98A

c.294G>A

1 paper

NM_182920.2

p.Q97L

c.290A>T

1 paper

NM_182920.2

p.S96P

c.286T>C

2 papers

NM_182920.2

p.S96T

c.286T>A

1 paper

NM_182920.2

p.Q136*

c.406C>T

1 paper

NM_182920.2

p.S92_S93delFs

c.275_279del5