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.K763E

c.2287A>G

Surrounding Variants

1 paper

NM_021794.4

p.A764delFs

c.2290delC

1 paper

NM_021794.4

p.A764fs

c.2290_2291fs

1 paper

NM_021794.4

p.E770K

c.2308G>A

2 papers

NM_021794.4

p.E754K

c.2260G>A

1 paper

NM_021794.4

p.Q750H

c.2250G>T

2 papers

NM_021794.4

p.Q750fs

c.2248_2249fs

1 paper

NM_021794.4

p.Q750H

c.2250G>C

1 paper

NM_021794.4

p.S777C

c.2329A>T

1 paper

NM_021794.4

p.S784I

c.2351G>T

1 paper

NM_021794.4

p.Q741H

c.2223G>T

1 paper

NM_021794.4

p.Q741H

c.2223G>C

1 paper

NM_021794.4

p.V740E

c.2219T>A