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.V5G

c.14T>G

Surrounding Variants

1 paper

NM_001324418.2

p.A3T

c.7G>A

1 paper

NM_001324418.2

p.M1_A6del0

c.1_18del18

1 paper

NM_001324418.2

p.P10_F11ins2

c.30_31ins6

1 paper

NM_001324418.2

p.L14_C15delFs

c.42_43delCT

2 papers

NM_001324418.2

p.L14L

c.42C>G

1 paper

NM_001324418.2

p.V16fs

c.46_47fs

1 paper

NM_001324418.2

p.P22L

c.65C>T

1 paper

NM_001324418.2

p.A28E

c.83C>A

1 paper

NM_001324418.2

p.G29Splc

c.85+9G>A

1 paper

NM_001324418.2

p.L55F

c.163C>T

10 papers

NM_001324418.2

p.P81R

c.242C>G