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.G70S

c.208G>A

Surrounding Variants

1 paper

NM_021794.4

p.L68V

c.202T>G

1 paper

NM_021794.4

p.L68I

c.202T>A

1 paper

NM_021794.4

p.L65L

c.195A>T

1 paper

NM_021794.4

p.Y64N

c.190T>A

1 paper

NM_021794.4

p.P61L

c.182C>T

1 paper

NM_021794.4

p.V59A

c.176T>C

1 paper

NM_021794.4

p.E54D

c.162G>T

1 paper

NM_021794.4

p.E54D

c.162G>C

1 paper

NM_021794.4

p.R86Q

c.257G>A

1 paper

NM_021794.4

p.R86R

c.258A>T

1 paper

NM_021794.4

p.R89G

c.265C>G

1 paper

NM_021794.4

p.V90I

c.268G>A