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

4 papers

NM_014237.3

p.W259*

c.777G>A

Surrounding Variants

1 paper

NM_014237.3

p.K260Q

c.778A>C

1 paper

NM_014237.3

p.K260E

c.778A>G

4 papers

NM_014237.3

p.W259*

c.776G>A

1 paper

NM_014237.3

p.K260R

c.779A>G

1 paper

NM_014237.3

p.R261W

c.781C>T

1 paper

NM_014237.3

p.L275H

c.824T>A

1 paper

NM_014237.3

p.V276L

c.826G>C

1 paper

NM_014237.3

p.V229A

c.686T>C

1 paper

NM_014237.3

p.T223T

c.669C>G

1 paper

NM_014237.3

p.V212F

c.634G>T

1 paper

NM_014237.3

p.M205T

c.614T>C

1 paper

NM_014237.3

p.S202T

c.604T>A