Varaico: Literature-Extracted Genetic Variants

ADAM9

183 papers

RefSeq Summary

This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and ha...

Pfam Domains

Pep_M12B_propepaa 44–121UCSCReprolysin family propeptide

Reprolysinaa 212–406UCSCReprolysin (M12B) family zinc metalloprotease

Disintegrinaa 423–496UCSCDisintegrin

ADAM_CRaa 501–615UCSCADAM cysteine-rich

Gene Aliases

HGNC Name

ADAM metallopeptidase domain 9

HGNC Previous Symbol

CORD9

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003816.3

p.Y511C

c.1532A>G

Surrounding Variants

1 paper

NM_003816.3

p.Q506fs

c.1516_1517fs

1 paper

NM_003816.3

p.C505delFs

c.1515delC

1 paper

NM_003816.3

p.F498_Q506del9

c.1492_1517del27

1 paper

NM_003816.3

p.P495L

c.1484C>T

1 paper

NM_003816.3

p.I527T

c.1580T>C

1 paper

NM_003816.3

p.S490C

c.1469C>G

1 paper

NM_003816.3

p.G488delFs

c.1463delG

1 paper

NM_003816.3

p.C480F

c.1439G>T

1 paper

NM_003816.3

p.R474*

c.1420C>T

2 papers

NM_003816.3

p.T471S

c.1412C>G

2 papers

NM_003816.3

p.T471S

c.1411A>T

1 paper

NM_003816.3

p.F466fs

c.1396_1397fs