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.D219H

c.655G>C

Surrounding Variants

2 papers

NM_025220.5

p.D219V

c.656A>T

1 paper

NM_025220.5

p.F223L

c.669C>G

1 paper

NM_025220.5

p.K234E

c.700A>G

1 paper

NM_025220.5

p.Q235E

c.703C>G

1 paper

NM_025220.5

p.P197L

c.590C>T

2 papers

NM_025220.5

p.P197S

c.589C>T

1 paper

NM_025220.5

p.K187R

c.560A>G

6 papers

NM_025220.5

p.T178A

c.532A>G

1 paper

NM_025220.5

p.W175C

c.525G>T

1 paper

NM_025220.5

p.W175C

c.525G>C

1 paper

NM_025220.5

p.L260del1

c.778_780delCAG

1 paper

NM_025220.5

p.P154S

c.460C>T