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.A314V

c.941C>T

Surrounding Variants

1 paper

NM_025220.5

p.E323*

c.967G>T

1 paper

NM_025220.5

p.A305V

c.914C>T

1 paper

NM_025220.5

p.L301R

c.902T>G

3 papers

NM_025220.5

p.Q299R

c.896A>G

1 paper

NM_025220.5

p.E334*

c.1000G>T

1 paper

NM_025220.5

p.P336S

c.1006C>T

1 paper

NM_025220.5

p.A340S

c.1018G>T

1 paper

NM_025220.5

p.A344V

c.1031C>T

1 paper

NM_025220.5

p.R286C

c.856C>T

3 papers

NM_025220.5

p.E346A

c.1037A>C

1 paper

NM_025220.5

p.C360R

c.1078T>C

1 paper

NM_025220.5

p.C361Y

c.1082G>A