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.L539F

c.1617A>T

Surrounding Variants

1 paper

NM_014237.3

p.L539F

c.1617A>C

1 paper

NM_014237.3

p.P540A

c.1618C>G

1 paper

NM_014237.3

p.S536L

c.1607C>T

1 paper

NM_014237.3

p.S528F

c.1583C>T

1 paper

NM_014237.3

p.K558delFs

c.1672delA

1 paper

NM_014237.3

p.K558fs

c.1672_1673fs

1 paper

NM_014237.3

p.T568A

c.1702A>G

1 paper

NM_014237.3

p.T568K

c.1703C>A

1 paper

NM_014237.3

p.A582V

c.1745C>T

1 paper

NM_014237.3

p.T583I

c.1748C>T

1 paper

NM_014237.3

p.P605S

c.1813C>T

1 paper

NM_014237.3

p.R481H

c.1442G>A