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.E193D

c.579A>T

Surrounding Variants

1 paper

NM_182920.2

p.D196N

c.586G>A

1 paper

NM_182920.2

p.E186*

c.556G>T

3 papers

NM_182920.2

p.R209C

c.625C>T

1 paper

NM_182920.2

p.R177Q

c.530G>A

1 paper

NM_182920.2

p.P212S

c.634C>T

1 paper

NM_182920.2

p.H221P

c.662A>C

1 paper

NM_182920.2

p.E227K

c.679G>A

1 paper

NM_182920.2

p.M172_L173Splc

c.516+10C>T

1 paper

NM_182920.2

p.Q136*

c.406C>T

1 paper

NM_182920.2

p.F124_T125insFs

c.372_373insGT

1 paper

NM_182920.2

p.F119Y

c.356T>A

1 paper

NM_182920.2

p.A117T

c.349G>A