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.L564L

c.1692G>T

Surrounding Variants

1 paper

NM_025220.5

p.G556R

c.1666G>C

1 paper

NM_025220.5

p.D550N

c.1648G>A

1 paper

NM_025220.5

p.N546D

c.1636A>G

1 paper

NM_025220.5

p.C573Y

c.1718G>A

1 paper

NM_025220.5

p.L576P

c.1727T>C

1 paper

NM_025220.5

p.Q579fs

c.1735_1736fs

1 paper

NM_025220.5

p.K582fs

c.1744_1745fs

1 paper

NM_025220.5

p.T596A

c.1786A>G

1 paper

NM_025220.5

p.C606G

c.1816T>G

1 paper

NM_025220.5

p.C606S

c.1816T>A

1 paper

NM_025220.5

p.C606S

c.1817G>C

1 paper

NM_025220.5

p.C606Y

c.1817G>A