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.S384T

c.1150T>A

Surrounding Variants

1 paper

NM_021794.4

p.I382insFs

c.1144dupA

1 paper

NM_021794.4

p.A386P

c.1156G>C

1 paper

NM_021794.4

p.I382fs

c.1144_1145fs

1 paper

NM_021794.4

p.A386E

c.1157C>A

1 paper

NM_021794.4

p.F379delFs

c.1137delA

1 paper

NM_021794.4

p.F379fs

c.1135_1136fs

1 paper

NM_021794.4

p.N391K

c.1173T>G

1 paper

NM_021794.4

p.N391K

c.1173T>A

1 paper

NM_021794.4

p.P393T

c.1177C>A

1 paper

NM_021794.4

p.N391_P393delFs

c.1172_1179del8

1 paper

NM_021794.4

p.S374C

c.1120A>T

1 paper

NM_021794.4

p.S371C

c.1111A>T