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.P801P

c.2403C>A

Surrounding Variants

1 paper

NM_014269.4

p.T800T

c.2400A>C

2 papers

NM_014269.4

p.T800T

c.2400A>G

1 paper

NM_014269.4

p.T800_P801insFs

c.2400_2401ins17

1 paper

NM_014269.4

p.T800I

c.2399C>T

1 paper

NM_014269.4

p.T800delins

c.2399_2400delinsTG

1 paper

NM_014269.4

p.T800fs

c.2398_2399fs

2 papers

NM_014269.4

p.T800_M809del0

c.2399_2425del27

2 papers

NM_014269.4

p.R804S

c.2412G>C

2 papers

NM_014269.4

p.R804S

c.2412G>T

1 paper

NM_014269.4

p.R804_Q805delins

c.2412_2415delinsTCAT

1 paper

NM_014269.4

p.P797fs

c.2389_2390fs

2 papers

NM_014269.4

p.L808V

c.2422T>G