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.E350D

c.1050A>T

Surrounding Variants

1 paper

NM_021794.4

p.E350D

c.1050A>C

1 paper

NM_021794.4

p.R356M

c.1067G>T

1 paper

NM_021794.4

p.R356K

c.1067G>A

1 paper

NM_021794.4

p.R356S

c.1068G>T

1 paper

NM_021794.4

p.R356S

c.1068G>C

1 paper

NM_021794.4

p.A343V

c.1028C>T

10 papers

NM_021794.4

p.L359P

c.1076T>C

1 paper

NM_021794.4

p.E339K

c.1015G>A

1 paper

NM_021794.4

p.S336C

c.1007C>G

1 paper

NM_021794.4

p.G369delFs

c.1105delC

1 paper

NM_021794.4

p.S371C

c.1111A>T

1 paper

NM_021794.4

p.S374C

c.1120A>T