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

4 papers

NM_001109.5

p.F657L

c.1971C>A

Surrounding Variants

4 papers

NM_001109.5

p.F657L

c.1971C>G

4 papers

NM_001109.5

p.F657L

c.1969T>C

1 paper

NM_001109.5

p.L662L

c.1984C>T

1 paper

NM_001109.5

p.L662P

c.1985T>C

1 paper

NM_001109.5

p.A650V

c.1949C>T

1 paper

NM_001109.5

p.L665L

c.1995G>C

1 paper

NM_001109.5

p.S683G

c.2047A>G

1 paper

NM_001109.5

p.A650Splc

c.1948+1G>A

1 paper

NM_001109.5

p.A636S

c.1906G>T

1 paper

NM_001109.5

p.V690M

c.2068G>A

1 paper

NM_001109.5

p.R709_V710delFs

c.2127_2128delCG

1 paper

NM_001109.5

p.P719L

c.2156C>T