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

1–12 of 159 variants

4 papers

NM_001109.5

p.W35R

c.103T>C

4 papers

NM_001109.5

p.W35R

c.103T>A

4 papers

NM_001109.5

p.F657L

c.1969T>C

4 papers

NM_001109.5

p.F657L

c.1971C>G

4 papers

NM_001109.5

p.F657L

c.1971C>A

3 papers

NM_001109.5

p.L46L

c.136C>T

3 papers

NM_001109.5

p.P461L

c.1382C>T

2 papers

NM_001109.5

p.P15P

c.45T>A

2 papers

NM_001109.5

p.R21W

c.61C>T

2 papers

NM_001109.5

p.R189W

c.565C>T

2 papers

NM_001109.5

p.E198A

c.593A>C

2 papers

NM_001109.5

p.G302R

c.904G>C