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

3 papers

NM_182920.2

p.K1740R

c.5219A>G

Surrounding Variants

1 paper

NM_182920.2

p.F1755F

c.5265C>T

1 paper

NM_182920.2

p.A1768V

c.5303C>T

1 paper

NM_182920.2

p.V1730V

c.5190C>G

1 paper

NM_182920.2

p.T1726fs

c.5176_5177fs

1 paper

NM_182920.2

p.T1726P

c.5176A>C

1 paper

NM_182920.2

p.Y1793C

c.5378A>G

1 paper

NM_182920.2

p.P1721fs

c.5161_5162fs

1 paper

NM_182920.2

p.P1721delFs

c.5162delG

1 paper

NM_182920.2

p.G1696V

c.5087G>T

1 paper

NM_182920.2

p.G1696A

c.5087G>C

1 paper

NM_182920.2

p.N1799I

c.5396A>T

1 paper

NM_182920.2

p.G1807R

c.5419G>C