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.M632K

c.1895T>A

Surrounding Variants

1 paper

NM_182920.2

p.R630H

c.1889G>A

1 paper

NM_182920.2

p.R630C

c.1888C>T

1 paper

NM_182920.2

p.G629delins

c.1885_1886delinsTC

3 papers

NM_182920.2

p.S636F

c.1907C>T

1 paper

NM_182920.2

p.E640K

c.1918G>A

1 paper

NM_182920.2

p.G624R

c.1870G>C

1 paper

NM_182920.2

p.G624R

c.1870G>A

1 paper

NM_182920.2

p.N622fs

c.1864_1865fs

1 paper

NM_182920.2

p.N622delFs

c.1865delT

3 papers

NM_182920.2

p.R647Q

c.1940G>A

2 papers

NM_182920.2

p.D658G

c.1973A>G

1 paper

NM_182920.2

p.G659E

c.1976G>A