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.T125S

c.373A>T

Surrounding Variants

2 papers

NM_021794.4

p.T128I

c.383C>T

1 paper

NM_021794.4

p.E118*

c.352G>T

1 paper

NM_021794.4

p.R134*

c.400C>T

1 paper

NM_021794.4

p.S115S

c.345C>T

1 paper

NM_021794.4

p.S115F

c.344C>T

1 paper

NM_021794.4

p.G135S

c.403G>A

1 paper

NM_021794.4

p.G135D

c.404G>A

1 paper

NM_021794.4

p.Y112C

c.335A>G

1 paper

NM_021794.4

p.I139S

c.416T>G

1 paper

NM_021794.4

p.D109fs

c.325_326fs

1 paper

NM_021794.4

p.A141T

c.421G>A

1 paper

NM_021794.4

p.Q145*

c.433C>T