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

2 papers

NM_014237.3

p.C337S

c.1010G>C

Surrounding Variants

2 papers

NM_014237.3

p.C337S

c.1009T>A

1 paper

NM_014237.3

p.C342*

c.1026C>A

1 paper

NM_014237.3

p.L321F

c.961C>T

1 paper

NM_014237.3

p.I316T

c.947T>C

1 paper

NM_014237.3

p.C360R

c.1078T>C

1 paper

NM_014237.3

p.C360Y

c.1079G>A

1 paper

NM_014237.3

p.M362I

c.1086G>A

1 paper

NM_014237.3

p.M362I

c.1086G>C

1 paper

NM_014237.3

p.M362I

c.1086G>T

1 paper

NM_014237.3

p.S370delFs

c.1108delT

1 paper

NM_014237.3

p.T374N

c.1121C>A

1 paper

NM_014237.3

p.Q388P

c.1163A>C