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.R263R

c.789G>A

Surrounding Variants

1 paper

NM_014269.4

p.K264R

c.791A>G

1 paper

NM_014269.4

p.D261N

c.781G>A

1 paper

NM_014269.4

p.H267Q

c.801C>A

1 paper

NM_014269.4

p.H267Q

c.801C>G

1 paper

NM_014269.4

p.I257F

c.769A>T

1 paper

NM_014269.4

p.K271N

c.813G>C

1 paper

NM_014269.4

p.K271N

c.813G>T

1 paper

NM_014269.4

p.N255T

c.764A>C

1 paper

NM_014269.4

p.P279S

c.835C>T

1 paper

NM_014269.4

p.L248_V262del15

c.742_785del45

2 papers

NM_014269.4

p.R280Q

c.839G>A

1 paper

NM_014269.4

p.L245_W251del0

c.734_751del18