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.P651S

c.1951C>T

Surrounding Variants

1 paper

NM_014269.4

p.P650L

c.1949C>T

1 paper

NM_014269.4

p.N652S

c.1955A>G

1 paper

NM_014269.4

p.C653fs

c.1957_1958fs

1 paper

NM_014269.4

p.C653delFs

c.1958delG

1 paper

NM_014269.4

p.K656R

c.1967A>G

1 paper

NM_014269.4

p.G657S

c.1969G>A

1 paper

NM_014269.4

p.C644*

c.1932C>A

1 paper

NM_014269.4

p.G657V

c.1970G>T

1 paper

NM_014269.4

p.G660V

c.1979G>T

1 paper

NM_014269.4

p.P666T

c.1996C>A

1 paper

NM_014269.4

p.P667T

c.1999C>A

1 paper

NM_014269.4

p.P667A

c.1999C>G