Varaico: Literature-Extracted Genetic Variants

ADAM30

99 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 30–117UCSCReprolysin family propeptide

Reprolysinaa 203–393UCSCReprolysin (M12B) family zinc metalloprotease

Disintegrinaa 408–480UCSCDisintegrin

ADAM_CRaa 485–602UCSCADAM cysteine-rich

Gene Aliases

HGNC Name

ADAM metallopeptidase domain 30

HGNC Alias Symbol

svph4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_021794.4

p.E180D

c.540A>C

Surrounding Variants

1 paper

NM_021794.4

p.E180D

c.540A>T

1 paper

NM_021794.4

p.M183delins

c.548_549delinsAT

1 paper

NM_021794.4

p.P185L

c.554C>T

1 paper

NM_021794.4

p.L174I

c.520T>A

1 paper

NM_021794.4

p.R191G

c.571A>G

1 paper

NM_021794.4

p.F195I

c.583T>A

1 paper

NM_021794.4

p.P196T

c.586C>A

1 paper

NM_021794.4

p.K164E

c.490A>G

1 paper

NM_021794.4

p.Y160C

c.479A>G

1 paper

NM_021794.4

p.E156D

c.468A>T

1 paper

NM_021794.4

p.E206Q

c.616G>C

1 paper

NM_021794.4

p.E206G

c.617A>G