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.P728_G729insFs

c.2184_2185insA

Surrounding Variants

1 paper

NM_025220.5

p.R734*

c.2200C>T

1 paper

NM_025220.5

p.C739*

c.2217C>A

3 papers

NM_025220.5

p.G717G

c.2151G>C

3 papers

NM_025220.5

p.V710I

c.2128G>A

1 paper

NM_025220.5

p.G684S

c.2050G>A

1 paper

NM_025220.5

p.P678L

c.2033C>T

1 paper

NM_025220.5

p.P677fs

c.2029_2030fs

1 paper

NM_025220.5

p.C671R

c.2011T>C

1 paper

NM_025220.5

p.C669G

c.2005T>G

1 paper

NM_025220.5

p.G661R

c.1981G>C

1 paper

NM_025220.5

p.G661R

c.1981G>A

1 paper

NM_025220.5

p.A656T

c.1966G>A