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.C421S

c.1261T>A

Surrounding Variants

1 paper

NM_021794.4

p.C421S

c.1262G>C

1 paper

NM_021794.4

p.Q422R

c.1265A>G

1 paper

NM_021794.4

p.R425W

c.1273C>T

1 paper

NM_021794.4

p.E411E

c.1233G>A

1 paper

NM_021794.4

p.E411A

c.1232A>C

1 paper

NM_021794.4

p.E411Q

c.1231G>C

1 paper

NM_021794.4

p.L433F

c.1299G>T

1 paper

NM_021794.4

p.L433F

c.1299G>C

1 paper

NM_021794.4

p.G403V

c.1208G>T

1 paper

NM_021794.4

p.C402W

c.1206T>G

1 paper

NM_021794.4

p.H446R

c.1337A>G

1 paper

NM_021794.4

p.N391_P393delFs

c.1172_1179del8