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.F163insFs

c.488dupT

Surrounding Variants

1 paper

NM_005137.3

p.Q159E

c.475C>G

1 paper

NM_005137.3

p.S156_T157ins4

c.466_470ins12

1 paper

NM_005137.3

p.A153delFs

c.459delG

1 paper

NM_005137.3

p.S175I

c.524G>T

1 paper

NM_005137.3

p.S175T

c.524G>C

1 paper

NM_005137.3

p.S175N

c.524G>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