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

1–12 of 201 variants

10 papers

NM_021794.4

p.L359P

c.1076T>C

7 papers

NM_021794.4

p.M246K

c.737T>A

7 papers

NM_021794.4

p.T737A

c.2209A>G

4 papers

NM_021794.4

p.I45V

c.133A>G

2 papers

NM_021794.4

p.T128I

c.383C>T

2 papers

NM_021794.4

p.W256C

c.768G>T

2 papers

NM_021794.4

p.W256C

c.768G>C

2 papers

NM_021794.4

p.Q750fs

c.2248_2249fs

2 papers

NM_021794.4

p.E754K

c.2260G>A

1 paper

NM_021794.4

p.M1L

c.1A>T

1 paper

NM_021794.4

p.M1V

c.1A>G

1 paper

NM_021794.4

p.M1L

c.1A>C