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.Y476*

c.1428T>G

Surrounding Variants

1 paper

NM_014237.3

p.Y476*

c.1428T>A

1 paper

NM_014237.3

p.R481H

c.1442G>A

1 paper

NM_014237.3

p.C471*

c.1413T>A

1 paper

NM_014237.3

p.C471Y

c.1412G>A

1 paper

NM_014237.3

p.G466*

c.1396G>T

1 paper

NM_014237.3

p.C464F

c.1391G>T

1 paper

NM_014237.3

p.C464R

c.1390T>C

1 paper

NM_014237.3

p.E457K

c.1369G>A

4 papers

NM_014237.3

p.C436R

c.1306T>C

1 paper

NM_014237.3

p.L425V

c.1273C>G

1 paper

NM_014237.3

p.S528F

c.1583C>T

1 paper

NM_014237.3

p.S536L

c.1607C>T