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.T285N

c.854C>A

Surrounding Variants

2 papers

NM_014269.4

p.R280Q

c.839G>A

1 paper

NM_014269.4

p.P279S

c.835C>T

1 paper

NM_014269.4

p.L292I

c.874C>A

1 paper

NM_014269.4

p.S298R

c.892A>C

1 paper

NM_014269.4

p.S298R

c.894T>A

1 paper

NM_014269.4

p.S298R

c.894T>G

1 paper

NM_014269.4

p.K271N

c.813G>C

1 paper

NM_014269.4

p.K271N

c.813G>T

1 paper

NM_014269.4

p.I300T

c.899T>C

1 paper

NM_014269.4

p.H267Q

c.801C>A

1 paper

NM_014269.4

p.H267Q

c.801C>G

1 paper

NM_014269.4

p.G305E

c.914G>A