Varaico: Literature-Extracted Genetic Variants

ADAM8

177 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 30–112UCSCReprolysin family propeptide

Reprolysinaa 200–400UCSCReprolysin (M12B) family zinc metalloprotease

Disintegrinaa 417–489UCSCDisintegrin

ADAM_CRaa 494–569UCSCADAM cysteine-rich

Gene Aliases

HGNC Name

ADAM metallopeptidase domain 8

HGNC Alias Symbols

CD156; MS2; CD156A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001109.5

p.T331I

c.992C>T

Surrounding Variants

1 paper

NM_001109.5

p.C330C

c.990T>C

1 paper

NM_001109.5

p.H334D

c.1000C>G

1 paper

NM_001109.5

p.E335Q

c.1003G>C

1 paper

NM_001109.5

p.E335K

c.1003G>A

1 paper

NM_001109.5

p.G327G

c.981C>T

1 paper

NM_001109.5

p.V326Fs

c.978delinsAGFs

1 paper

NM_001109.5

p.D345N

c.1033G>A

1 paper

NM_001109.5

p.G360D

c.1079G>A

1 paper

NM_001109.5

p.R361C

c.1081C>T

1 paper

NM_001109.5

p.R361S

c.1081C>A

1 paper

NM_001109.5

p.A365Fs

c.1095delinsAGFs

1 paper

NM_001109.5

p.N398fs

c.1192_1193fs