Varaico: Literature-Extracted Genetic Variants

DGCR2

125 papers

RefSeq Summary

Deletions of the 22q11.2 have been associated with a wide range of developmental defects (notably DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome and isolated conotrunc...

Pfam Domains

Ldl_recept_aaa 28–66UCSCLow-density lipoprotein receptor domain class A

Lectin_Caa 134–267UCSCLectin C-type domain

Gene Aliases

HGNC Name

DiGeorge syndrome critical region gene 2

HGNC Alias Symbols

KIAA0163; LAN; IDD; DGS-C; SEZ-12

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005137.3

p.G135R

c.403G>A

Surrounding Variants

1 paper

NM_005137.3

p.L133L

c.399G>A

1 paper

NM_005137.3

p.H121Q

c.363C>A

1 paper

NM_005137.3

p.H120Q

c.360C>G

1 paper

NM_005137.3

p.H120Q

c.360C>A

1 paper

NM_005137.3

p.G150insFs

c.449_450ins4

1 paper

NM_005137.3

p.G150insFs

c.449_450ins5

1 paper

NM_005137.3

p.G150insFs

c.449_450ins7

1 paper

NM_005137.3

p.G150insFs

c.449_450ins10

1 paper

NM_005137.3

p.G150insFs

c.449_450ins25

1 paper

NM_005137.3

p.G150insFs

c.449_450ins25

1 paper

NM_005137.3

p.G150insFs

c.449_450ins25

1 paper

NM_005137.3

p.G150insFs

c.449_450ins25