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

Selected Variant

1 paper

NM_001324418.2

p.R219G

c.655A>G

Surrounding Variants

1 paper

NM_001324418.2

p.R225Q

c.674G>A

1 paper

NM_001324418.2

p.Q226_L227Splc

c.678+1G>A

4 papers

NM_001324418.2

p.V207I

c.619G>A

1 paper

NM_001324418.2

p.Q226_L227Splc

c.679-1G>A

1 paper

NM_001324418.2

p.R228S

c.682C>A

1 paper

NM_001324418.2

p.R232C

c.694C>T

1 paper

NM_001324418.2

p.T238T

c.714C>T

1 paper

NM_001324418.2

p.L243L

c.727C>T

1 paper

NM_001324418.2

p.L243L

c.729G>C

1 paper

NM_001324418.2

p.M251_F252Splc

c.753+47C>T

1 paper

NM_001324418.2

p.R256W

c.766C>T

1 paper

NM_001324418.2

p.D274N

c.820G>A