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

1–12 of 270 variants

7 papers

NM_014269.4

p.P31L

c.92C>T

5 papers

NM_014269.4

p.*821Q

c.2461T>C

4 papers

NM_014269.4

p.V205I

c.613G>A

4 papers

NM_014269.4

p.M773T

c.2318T>C

3 papers

NM_014269.4

p.G589E

c.1766G>A

3 papers

NM_014269.4

p.L691del1

c.2071_2072delTTA

3 papers

NM_014269.4

p.T746M

c.2237C>T

3 papers

NM_014269.4

p.R771Q

c.2312G>A

3 papers

NM_014269.4

p.S775S

c.2325T>C

2 papers

NM_014269.4

p.I55F

c.163A>T

2 papers

NM_014269.4

p.L73fs

c.217_218fs

2 papers

NM_014269.4

p.S112F

c.335C>T