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.T267A

c.799A>G

Surrounding Variants

1 paper

NM_001109.5

p.S261S

c.783C>T

1 paper

NM_001109.5

p.R277L

c.830G>T

1 paper

NM_001109.5

p.R277Q

c.830G>A

1 paper

NM_001109.5

p.S254T

c.761G>C

1 paper

NM_001109.5

p.T280I

c.839C>T

1 paper

NM_001109.5

p.R282Q

c.845G>A

1 paper

NM_001109.5

p.V247fs

c.739_740fs

1 paper

NM_001109.5

p.V247delFs

c.739delC

1 paper

NM_001109.5

p.N287N

c.861C>T

1 paper

NM_001109.5

p.L290H

c.869T>A

1 paper

NM_001109.5

p.R243C

c.727C>T

1 paper

NM_001109.5

p.N241S

c.722A>G