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

3 papers

NM_025220.5

p.D803_Q806delFs

c.2409_2416del8

Surrounding Variants

1 paper

NM_025220.5

p.Q804_M807delFs

c.2412_2419del8

1 paper

NM_025220.5

p.Q804fs

c.2410_2411fs

3 papers

NM_025220.5

p.D778_N781delFs

c.2334_2341del8

1 paper

NM_025220.5

p.P776R

c.2327C>G

17 papers

NM_025220.5

p.P774S

c.2320C>T

23 papers

NM_025220.5

p.M764T

c.2291T>C

2 papers

NM_025220.5

p.P748S

c.2242C>T

2 papers

NM_025220.5

p.G747Splc

c.2240+427C>A

2 papers

NM_025220.5

p.G747Splc

c.2240+384C>T

1 paper

NM_025220.5

p.C739*

c.2217C>A

1 paper

NM_025220.5

p.R734*

c.2200C>T

1 paper

NM_025220.5

p.P728_G729insFs

c.2184_2185insA