Varaico: Literature-Extracted Genetic Variants

ADAM29

136 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 27–107UCSCReprolysin family propeptide

Reprolysinaa 198–388UCSCReprolysin (M12B) family zinc metalloprotease

Disintegrinaa 406–478UCSCDisintegrin

ADAM_CRaa 483–596UCSCADAM cysteine-rich

Gene Aliases

HGNC Name

ADAM metallopeptidase domain 29

HGNC Alias Symbols

svph1; CT73

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014269.4

p.K392N

c.1176G>C

Surrounding Variants

1 paper

NM_014269.4

p.K392N

c.1176G>T

1 paper

NM_014269.4

p.V389I

c.1165G>A

1 paper

NM_014269.4

p.N396K

c.1188T>A

1 paper

NM_014269.4

p.N396K

c.1188T>G

2 papers

NM_014269.4

p.R399H

c.1196G>A

1 paper

NM_014269.4

p.L385F

c.1155G>C

1 paper

NM_014269.4

p.L385F

c.1155G>T

1 paper

NM_014269.4

p.K383E

c.1147A>G

1 paper

NM_014269.4

p.T382fs

c.1144_1145fs

1 paper

NM_014269.4

p.G403D

c.1208G>A

1 paper

NM_014269.4

p.Y377N

c.1129T>A

1 paper

NM_014269.4

p.E409E

c.1227A>G