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.Y101*

c.303C>G

Surrounding Variants

1 paper

NM_014269.4

p.Y101*

c.303C>A

1 paper

NM_014269.4

p.H103Y

c.307C>T

1 paper

NM_014269.4

p.G104V

c.311G>T

1 paper

NM_014269.4

p.G108R

c.322G>A

1 paper

NM_014269.4

p.G108R

c.322G>C

1 paper

NM_014269.4

p.P94P

c.282A>C

1 paper

NM_014269.4

p.G108G

c.324G>T

1 paper

NM_014269.4

p.D92G

c.275A>G

1 paper

NM_014269.4

p.E111K

c.331G>A

2 papers

NM_014269.4

p.S112F

c.335C>T

1 paper

NM_014269.4

p.S112S

c.336C>T

1 paper

NM_014269.4

p.I89M

c.267C>G