Varaico: Literature-Extracted Genetic Variants

ADAM22

106 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 51–142UCSCReprolysin family propeptide

Reprolysinaa 239–438UCSCReprolysin (M12B) family zinc metalloprotease

Disintegrinaa 453–526UCSCDisintegrin

ADAM_CRaa 531–649UCSCADAM cysteine-rich

EGF_2aa 679–711UCSCEGF-like domain

Gene Aliases

HGNC Name

ADAM metallopeptidase domain 22

HGNC Alias Symbol

MDC2

Papers

RefSeq ID

Protein change

DNA change

1–12 of 148 variants

10 papers

NM_001324418.2

p.P81R

c.242C>G

8 papers

NM_001324418.2

p.C401Y

c.1202G>A

4 papers

NM_001324418.2

p.E128K

c.382G>A

4 papers

NM_001324418.2

p.V207I

c.619G>A

4 papers

NM_001324418.2

p.S799delFs

c.2396delG

3 papers

NM_001324418.2

p.R310H

c.929G>A

3 papers

NM_001324418.2

p.S793I

c.2378G>T

2 papers

NM_001324418.2

p.L14L

c.42C>G

2 papers

NM_001324418.2

p.V127M

c.379G>A

2 papers

NM_001324418.2

p.V127E

c.380T>A

2 papers

NM_001324418.2

p.E359A

c.1076A>C

2 papers

NM_001324418.2

p.D405A

c.1214A>C