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.K1829N

c.5487A>T

Surrounding Variants

1 paper

NM_182920.2

p.K1829N

c.5487A>C

1 paper

NM_182920.2

p.F1827insFs

c.5480dupT

1 paper

NM_182920.2

p.S1826N

c.5477G>A

1 paper

NM_182920.2

p.G1823G

c.5469G>A

1 paper

NM_182920.2

p.A1822T

c.5464G>A

1 paper

NM_182920.2

p.T1820M

c.5459C>T

1 paper

NM_182920.2

p.I1839K

c.5516T>A

1 paper

NM_182920.2

p.R1810R

c.5430C>T

2 papers

NM_182920.2

p.R1810H

c.5429G>A

1 paper

NM_182920.2

p.G1807R

c.5419G>C

1 paper

NM_182920.2

p.G1807R

c.5419G>A

1 paper

NM_182920.2

p.T1841Splc

c.5521+35G>A