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.Y201delFs

c.602_603delGT

Surrounding Variants

1 paper

NM_001109.5

p.Y201del1

c.601_602delGTA

1 paper

NM_001109.5

p.Y205C

c.614A>G

1 paper

NM_001109.5

p.E198V

c.593A>T

2 papers

NM_001109.5

p.E198A

c.593A>C

1 paper

NM_001109.5

p.E198K

c.592G>A

1 paper

NM_001109.5

p.V207V

c.621C>T

1 paper

NM_001109.5

p.A211E

c.632C>A

1 paper

NM_001109.5

p.D192A

c.575A>C

1 paper

NM_001109.5

p.E212Q

c.634G>C

1 paper

NM_001109.5

p.Q214*

c.640C>T

1 paper

NM_001109.5

p.D234N

c.700G>A

2 papers

NM_001109.5

p.R189W

c.565C>T