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

1–12 of 138 variants

23 papers

NM_025220.5

p.M764T

c.2291T>C

17 papers

NM_025220.5

p.P774S

c.2320C>T

6 papers

NM_025220.5

p.R119*

c.355C>T

6 papers

NM_025220.5

p.T178A

c.532A>G

4 papers

NM_025220.5

p.M1R

c.2T>G

3 papers

NM_025220.5

p.Q299R

c.896A>G

3 papers

NM_025220.5

p.E346A

c.1037A>C

3 papers

NM_025220.5

p.A395V

c.1184C>T

3 papers

NM_025220.5

p.V710I

c.2128G>A

3 papers

NM_025220.5

p.G717G

c.2151G>C

3 papers

NM_025220.5

p.D778_N781delFs

c.2334_2341del8

3 papers

NM_025220.5

p.D803_Q806delFs

c.2409_2416del8