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.S1248G

c.3742A>G

Surrounding Variants

1 paper

NM_182920.2

p.L1245L

c.3735G>A

1 paper

NM_182920.2

p.L1245W

c.3734T>G

1 paper

NM_182920.2

p.A1244V

c.3731C>T

1 paper

NM_182920.2

p.C1239F

c.3716G>T

1 paper

NM_182920.2

p.V1236L

c.3706G>T

1 paper

NM_182920.2

p.V1236L

c.3706G>C

1 paper

NM_182920.2

p.E1233K

c.3697G>A

1 paper

NM_182920.2

p.E1232Q

c.3694G>C

1 paper

NM_182920.2

p.V1229E

c.3686T>A

4 papers

NM_182920.2

p.R1203W

c.3607C>T

1 paper

NM_182920.2

p.G1199fs

c.3595_3596fs

1 paper

NM_182920.2

p.A1181T

c.3541G>A