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.V689L

c.2065G>C

Surrounding Variants

1 paper

NM_021794.4

p.V689L

c.2065G>T

1 paper

NM_021794.4

p.S685P

c.2053T>C

1 paper

NM_021794.4

p.R695C

c.2083C>T

1 paper

NM_021794.4

p.A681V

c.2042C>T

1 paper

NM_021794.4

p.L698I

c.2092T>A

1 paper

NM_021794.4

p.S672R

c.2016T>G

1 paper

NM_021794.4

p.S672R

c.2016T>A

1 paper

NM_021794.4

p.S672R

c.2014A>C

1 paper

NM_021794.4

p.D671E

c.2013C>G

1 paper

NM_021794.4

p.D671E

c.2013C>A

1 paper

NM_021794.4

p.S669R

c.2007C>G

1 paper

NM_021794.4

p.S669R

c.2007C>A