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.I6V

c.16A>G

Surrounding Variants

1 paper

NM_021794.4

p.M1T

c.2T>C

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

1 paper

NM_021794.4

p.M1insFs

c.1_2insG

1 paper

NM_021794.4

p.M1_R2insG

c.1_5ins3

1 paper

NM_021794.4

p.D29H

c.85G>C

1 paper

NM_021794.4

p.E35*

c.103G>T

1 paper

NM_021794.4

p.G36R

c.106G>C

1 paper

NM_021794.4

p.G36R

c.106G>A

1 paper

NM_021794.4

p.S40L

c.119C>T

1 paper

NM_021794.4

p.S40S

c.120G>A