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.I116R

c.347T>G

Surrounding Variants

1 paper

NM_001324418.2

p.H119Y

c.355C>T

1 paper

NM_001324418.2

p.S112F

c.335C>T

1 paper

NM_001324418.2

p.G123R

c.367G>A

2 papers

NM_001324418.2

p.V127M

c.379G>A

2 papers

NM_001324418.2

p.V127E

c.380T>A

4 papers

NM_001324418.2

p.E128K

c.382G>A

1 paper

NM_001324418.2

p.K130del1

c.388_389delAAA