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

7 papers

NM_014269.4

p.P31L

c.92C>T

Surrounding Variants

1 paper

NM_014269.4

p.P31S

c.91C>T

1 paper

NM_014269.4

p.S29N

c.86G>A

1 paper

NM_014269.4

p.V34L

c.100G>C

1 paper

NM_014269.4

p.V34L

c.100G>T

1 paper

NM_014269.4

p.H28L

c.83A>T

1 paper

NM_014269.4

p.H28_P30del0

c.83_88del6

1 paper

NM_014269.4

p.P36S

c.106C>T

1 paper

NM_014269.4

p.S17Y

c.50C>A

1 paper

NM_014269.4

p.L14L

c.40C>T

1 paper

NM_014269.4

p.Y54N

c.160T>A

2 papers

NM_014269.4

p.I55F

c.163A>T

1 paper

NM_014269.4

p.L5L

c.15C>T