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.V357V

c.1071G>C

Surrounding Variants

2 papers

NM_001324418.2

p.E359A

c.1076A>C

1 paper

NM_001324418.2

p.S350S

c.1050G>A

1 paper

NM_001324418.2

p.C349F

c.1046G>T

1 paper

NM_001324418.2

p.G346C

c.1036G>T

1 paper

NM_001324418.2

p.G341R

c.1021G>A

1 paper

NM_001324418.2

p.G341R

c.1021G>C

1 paper

NM_001324418.2

p.S340R

c.1020C>A

1 paper

NM_001324418.2

p.S340R

c.1020C>G

1 paper

NM_001324418.2

p.S340R

c.1018A>C

1 paper

NM_001324418.2

p.E359_F360Splc

c.1078-1G>A

1 paper

NM_001324418.2

p.K362T

c.1085A>C

1 paper

NM_001324418.2

p.S382S

c.1146A>G