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.G125*

c.373G>T

Surrounding Variants

1 paper

NM_014269.4

p.G125R

c.373G>A

1 paper

NM_014269.4

p.G125R

c.373G>C

1 paper

NM_014269.4

p.G125E

c.374G>A

1 paper

NM_014269.4

p.G122A

c.365G>C

1 paper

NM_014269.4

p.G121G

c.363G>A

1 paper

NM_014269.4

p.D131N

c.391G>A

1 paper

NM_014269.4

p.D131Y

c.391G>T

1 paper

NM_014269.4

p.L116L

c.348C>G

2 papers

NM_014269.4

p.S115F

c.344C>T

1 paper

NM_014269.4

p.E135K

c.403G>A

1 paper

NM_014269.4

p.E135G

c.404A>G

1 paper

NM_014269.4

p.S112S

c.336C>T