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.C482F

c.1445G>T

Surrounding Variants

1 paper

NM_025220.5

p.C482S

c.1445G>C

1 paper

NM_025220.5

p.C482S

c.1444T>A

1 paper

NM_025220.5

p.D483A

c.1448A>C

1 paper

NM_025220.5

p.R476C

c.1426C>T

1 paper

NM_025220.5

p.C475G

c.1423T>G

1 paper

NM_025220.5

p.A473fs

c.1417_1418fs

1 paper

NM_025220.5

p.P470_A471insFs

c.1410_1413dup4

1 paper

NM_025220.5

p.G472V

c.1415G>T

1 paper

NM_025220.5

p.A471_G472insFs

c.1413_1414ins4

2 papers

NM_025220.5

p.S493F

c.1478C>T

1 paper

NM_025220.5

p.C495insFs

c.1484_1485insG

1 paper

NM_025220.5

p.P496L

c.1487C>T