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

2 papers

NM_014269.4

p.L73fs

c.217_218fs

Surrounding Variants

1 paper

NM_014269.4

p.L73delFs

c.219delG

1 paper

NM_014269.4

p.L72P

c.215T>C

1 paper

NM_014269.4

p.L72F

c.214C>T

1 paper

NM_014269.4

p.K76N

c.228A>T

1 paper

NM_014269.4

p.H77Y

c.229C>T

1 paper

NM_014269.4

p.K68N

c.204G>C

1 paper

NM_014269.4

p.K68N

c.204G>T

1 paper

NM_014269.4

p.H77H

c.231C>T

1 paper

NM_014269.4

p.V80V

c.240G>C

1 paper

NM_014269.4

p.Y83_A88del6

c.247_263del18

1 paper

NM_014269.4

p.H63Y

c.187C>T

1 paper

NM_014269.4

p.K62E

c.184A>G