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.W194*

c.581G>A

Surrounding Variants

1 paper

NM_014269.4

p.W194*

c.582G>A

2 papers

NM_014269.4

p.E201K

c.601G>A

1 paper

NM_014269.4

p.Q185E

c.553C>G

4 papers

NM_014269.4

p.V205I

c.613G>A

1 paper

NM_014269.4

p.N182K

c.546T>A

1 paper

NM_014269.4

p.I180T

c.539T>C

1 paper

NM_014269.4

p.E178K

c.532G>A

1 paper

NM_014269.4

p.E176K

c.526G>A

1 paper

NM_014269.4

p.R174G

c.520C>G

1 paper

NM_014269.4

p.R174*

c.520C>T

1 paper

NM_014269.4

p.I171I

c.513A>T

1 paper

NM_014269.4

p.N217N

c.651C>T