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.V740E

c.2219T>A

Surrounding Variants

1 paper

NM_021794.4

p.V740L

c.2218G>T

1 paper

NM_021794.4

p.V740L

c.2218G>C

1 paper

NM_021794.4

p.T739I

c.2216C>T

1 paper

NM_021794.4

p.T739N

c.2216C>A

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.K738E

c.2212A>G

7 papers

NM_021794.4

p.T737A

c.2209A>G

1 paper

NM_021794.4

p.E731*

c.2191G>T

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