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.N436T

c.1307A>C

Surrounding Variants

1 paper

NM_001109.5

p.Q441*

c.1321C>T

1 paper

NM_001109.5

p.A449V

c.1346C>T

1 paper

NM_001109.5

p.G451S

c.1351G>A

1 paper

NM_001109.5

p.K458_V459Splc

c.1374+2T>C

3 papers

NM_001109.5

p.P461L

c.1382C>T

1 paper

NM_001109.5

p.P461R

c.1382C>G

1 paper

NM_001109.5

p.P461P

c.1383G>T

1 paper

NM_001109.5

p.R467H

c.1400G>A

1 paper

NM_001109.5

p.D474N

c.1420G>A

1 paper

NM_001109.5

p.D474A

c.1421A>C

1 paper

NM_001109.5

p.E477D

c.1431G>C

1 paper

NM_001109.5

p.P427delFs

c.1281delG