Varaico: Literature-Extracted Genetic Variants

ADAM33

157 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 38–121UCSCReprolysin family propeptide

Reprolysinaa 210–409UCSCReprolysin (M12B) family zinc metalloprotease

Disintegrinaa 426–498UCSCDisintegrin

ADAM_CRaa 503–618UCSCADAM cysteine-rich

Gene Aliases

HGNC Name

ADAM metallopeptidase domain 33

HGNC Previous Symbol

C20orf153

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_025220.5

p.S61S

c.183G>A

Surrounding Variants

1 paper

NM_025220.5

p.E73K

c.217G>A

1 paper

NM_025220.5

p.E73_G74insFs

c.219_220insG

1 paper

NM_025220.5

p.N84I

c.251A>T

1 paper

NM_025220.5

p.N109S

c.326A>G

1 paper

NM_025220.5

p.T111_D112Splc

c.334-8C>T

6 papers

NM_025220.5

p.R119*

c.355C>T

1 paper

NM_025220.5

p.D125N

c.373G>A

2 papers

NM_025220.5

p.G135R

c.403G>A

1 paper

NM_025220.5

p.M136I

c.408G>T

1 paper

NM_025220.5

p.M136I

c.408G>C

1 paper

NM_025220.5

p.M136I

c.408G>A

1 paper

NM_025220.5

p.L56V

c.166C>G