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.C581F

c.1742G>T

Surrounding Variants

1 paper

NM_014269.4

p.C581Y

c.1742G>A

1 paper

NM_014269.4

p.C581*

c.1743C>A

1 paper

NM_014269.4

p.R575G

c.1723C>G

1 paper

NM_014269.4

p.R575C

c.1723C>T

1 paper

NM_014269.4

p.W573C

c.1719G>C

1 paper

NM_014269.4

p.W573C

c.1719G>T

3 papers

NM_014269.4

p.G589E

c.1766G>A

1 paper

NM_014269.4

p.V571E

c.1712T>A

1 paper

NM_014269.4

p.G596V

c.1787G>T

1 paper

NM_014269.4

p.E597Q

c.1789G>C

1 paper

NM_014269.4

p.G601A

c.1802G>C

1 paper

NM_014269.4

p.E603delFs

c.1807delG