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.C495S

c.1483T>A

Surrounding Variants

1 paper

NM_021794.4

p.C495R

c.1483T>C

1 paper

NM_021794.4

p.C495S

c.1484G>C

1 paper

NM_021794.4

p.E492G

c.1475A>G

1 paper

NM_021794.4

p.T487A

c.1459A>G

1 paper

NM_021794.4

p.C507S

c.1519T>A

1 paper

NM_021794.4

p.C507S

c.1520G>C

1 paper

NM_021794.4

p.A515T

c.1543G>A

1 paper

NM_021794.4

p.A518S

c.1552G>T

1 paper

NM_021794.4

p.Y523Y

c.1569T>C

1 paper

NM_021794.4

p.N462fs

c.1384_1385fs

1 paper

NM_021794.4

p.N462D

c.1384A>G

1 paper

NM_021794.4

p.G530S

c.1588G>A