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.D224E

c.672T>G

Surrounding Variants

1 paper

NM_014269.4

p.D224E

c.672T>A

1 paper

NM_014269.4

p.L225I

c.673C>A

1 paper

NM_014269.4

p.V229A

c.686T>C

2 papers

NM_014269.4

p.N230delFs

c.690delT

1 paper

NM_014269.4

p.I231T

c.692T>C

1 paper

NM_014269.4

p.N217N

c.651C>T

1 paper

NM_014269.4

p.S234F

c.701C>T

1 paper

NM_014269.4

p.I239delFs

c.715_716delAT

1 paper

NM_014269.4

p.G240C

c.718G>T

4 papers

NM_014269.4

p.V205I

c.613G>A

1 paper

NM_014269.4

p.L244S

c.731T>C

1 paper

NM_014269.4

p.L245_W251del0

c.734_751del18