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.N460K

c.1380T>A

Surrounding Variants

1 paper

NM_014269.4

p.N460K

c.1380T>G

1 paper

NM_014269.4

p.E461K

c.1381G>A

1 paper

NM_014269.4

p.E461A

c.1382A>C

1 paper

NM_014269.4

p.D463Y

c.1387G>T

1 paper

NM_014269.4

p.W467R

c.1399T>A

1 paper

NM_014269.4

p.W467R

c.1399T>C

1 paper

NM_014269.4

p.F448F

c.1344C>T

1 paper

NM_014269.4

p.C475G

c.1423T>G

1 paper

NM_014269.4

p.G440R

c.1318G>A

1 paper

NM_014269.4

p.G440R

c.1318G>C

1 paper

NM_014269.4

p.G484E

c.1451G>A

1 paper

NM_014269.4

p.I485I

c.1455T>A