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.L260del1

c.778_780delCAG

Surrounding Variants

1 paper

NM_025220.5

p.R286C

c.856C>T

3 papers

NM_025220.5

p.Q299R

c.896A>G

1 paper

NM_025220.5

p.L301R

c.902T>G

1 paper

NM_025220.5

p.A305V

c.914C>T

1 paper

NM_025220.5

p.Q235E

c.703C>G

1 paper

NM_025220.5

p.K234E

c.700A>G

1 paper

NM_025220.5

p.A314V

c.941C>T

1 paper

NM_025220.5

p.F223L

c.669C>G

1 paper

NM_025220.5

p.E323*

c.967G>T

2 papers

NM_025220.5

p.D219V

c.656A>T

1 paper

NM_025220.5

p.D219H

c.655G>C

1 paper

NM_025220.5

p.E334*

c.1000G>T