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.Q811Q

c.2433G>A

Surrounding Variants

1 paper

NM_001324418.2

p.I817I

c.2451C>T

4 papers

NM_001324418.2

p.S799delFs

c.2396delG

2 papers

NM_001324418.2

p.S799fs

c.2395_2396fs

1 paper

NM_001324418.2

p.N795S

c.2384A>G

1 paper

NM_001324418.2

p.S793N

c.2378G>A

3 papers

NM_001324418.2

p.S793I

c.2378G>T

1 paper

NM_001324418.2

p.P790A

c.2368C>G

1 paper

NM_001324418.2

p.D787D

c.2361C>T

1 paper

NM_001324418.2

p.D782D

c.2346C>T

1 paper

NM_021723.5

p.W811*

c.2432G>A

1 paper

NM_021723.5

p.W811*

c.2433G>A

1 paper

NM_001324418.2

p.R860*

c.2578C>T