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.Y582*

c.1746T>A

Surrounding Variants

1 paper

NM_001109.5

p.Y582*

c.1746T>G

1 paper

NM_001109.5

p.A581A

c.1743G>A

1 paper

NM_001109.5

p.T580A

c.1738A>G

1 paper

NM_001109.5

p.A564A

c.1692C>T

1 paper

NM_001109.5

p.R563H

c.1688G>A

1 paper

NM_001109.5

p.C554Y

c.1661G>A

1 paper

NM_001109.5

p.K540fs

c.1618_1619fs

1 paper

NM_001109.5

p.K540insFs

c.1619dupA

1 paper

NM_001109.5

p.S529P

c.1585T>C

1 paper

NM_001109.5

p.E527K

c.1579G>A

1 paper

NM_001109.5

p.G600*

c.1798G>T

1 paper

NM_001109.5

p.R601C

c.1801C>T