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.K261N

c.783A>C

Surrounding Variants

1 paper

NM_021794.4

p.K261N

c.783A>T

1 paper

NM_021794.4

p.R263C

c.787C>T

1 paper

NM_021794.4

p.N260D

c.778A>G

2 papers

NM_021794.4

p.W256C

c.768G>T

2 papers

NM_021794.4

p.W256C

c.768G>C

1 paper

NM_021794.4

p.E268V

c.803A>T

1 paper

NM_021794.4

p.G274V

c.821G>T

7 papers

NM_021794.4

p.M246K

c.737T>A

1 paper

NM_021794.4

p.K280*

c.838A>T

1 paper

NM_021794.4

p.D243A

c.728A>C

1 paper

NM_021794.4

p.D243H

c.727G>C

1 paper

NM_021794.4

p.S282delFs

c.844delT