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.D92G

c.275A>G

Surrounding Variants

1 paper

NM_014269.4

p.P94P

c.282A>C

1 paper

NM_014269.4

p.I89M

c.267C>G

1 paper

NM_014269.4

p.Q86K

c.256C>A

1 paper

NM_014269.4

p.Y101*

c.303C>A

1 paper

NM_014269.4

p.Y101*

c.303C>G

1 paper

NM_014269.4

p.Y83_A88del6

c.247_263del18

1 paper

NM_014269.4

p.H103Y

c.307C>T

1 paper

NM_014269.4

p.V80V

c.240G>C

1 paper

NM_014269.4

p.G104V

c.311G>T

1 paper

NM_014269.4

p.H77H

c.231C>T

1 paper

NM_014269.4

p.H77Y

c.229C>T

1 paper

NM_014269.4

p.K76N

c.228A>T