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.G588C

c.1762G>T

Surrounding Variants

1 paper

NM_021794.4

p.S594F

c.1781C>T

1 paper

NM_021794.4

p.L579I

c.1735T>A

1 paper

NM_021794.4

p.G599V

c.1796G>T

1 paper

NM_021794.4

p.I574T

c.1721T>C

1 paper

NM_021794.4

p.D567Y

c.1699G>T

1 paper

NM_021794.4

p.G613R

c.1837G>C

1 paper

NM_021794.4

p.G613R

c.1837G>A

1 paper

NM_021794.4

p.N622fs

c.1864_1865fs

1 paper

NM_021794.4

p.N622fs

c.1864_1865fs

1 paper

NM_021794.4

p.V624I

c.1870G>A

1 paper

NM_021794.4

p.A550S

c.1648G>T

1 paper

NM_021794.4

p.E636*

c.1906G>T