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.N413D

c.1237A>G

Surrounding Variants

1 paper

NM_001109.5

p.V410L

c.1228G>T

1 paper

NM_001109.5

p.L405L

c.1213C>T

1 paper

NM_001109.5

p.S403R

c.1209C>G

1 paper

NM_001109.5

p.P400T

c.1198C>A

1 paper

NM_001109.5

p.P427delFs

c.1281delG

1 paper

NM_001109.5

p.E428fs

c.1282_1283fs

1 paper

NM_001109.5

p.N398fs

c.1192_1193fs

1 paper

NM_001109.5

p.A365Fs

c.1095delinsAGFs

1 paper

NM_001109.5

p.R361C

c.1081C>T

1 paper

NM_001109.5

p.R361S

c.1081C>A

1 paper

NM_001109.5

p.G360D

c.1079G>A

1 paper

NM_001109.5

p.D345N

c.1033G>A