Varaico: Literature-Extracted Genetic Variants

ADAM18

72 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 12–98UCSCReprolysin family propeptide

Reprolysinaa 184–381UCSCReprolysin (M12B) family zinc metalloprotease

Disintegrinaa 399–474UCSCDisintegrin

ADAM_CRaa 479–595UCSCADAM cysteine-rich

Gene Aliases

HGNC Name

ADAM metallopeptidase domain 18

HGNC Alias Symbols

tMDCIII; ADAM27

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014237.3

p.L8P

c.23T>C

Surrounding Variants

1 paper

NM_014237.3

p.G19Splc

c.56-2A>G

1 paper

NM_014237.3

p.P30S

c.88C>T

1 paper

NM_014237.3

p.R31W

c.91C>T