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.R696Q

c.2087G>A

Surrounding Variants

1 paper

NM_014269.4

p.L690_L691insFs

c.2070_2071insTT

1 paper

NM_014269.4

p.L690fs

c.2068_2069fs

3 papers

NM_014269.4

p.L691del1

c.2071_2072delTTA

1 paper

NM_014269.4

p.K706R

c.2117A>G

1 paper

NM_014269.4

p.V710I

c.2128G>A

1 paper

NM_014269.4

p.I681V

c.2041A>G

1 paper

NM_014269.4

p.A715_K716del2

c.2143_2147del6

1 paper

NM_014269.4

p.K674E

c.2020A>G

2 papers

NM_014269.4

p.K674*

c.2020A>T

1 paper

NM_014269.4

p.R723H

c.2168G>A

1 paper

NM_014269.4

p.P725A

c.2173C>G

1 paper

NM_014269.4

p.P667T

c.1999C>A