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.Q50*

c.148C>T

Surrounding Variants

1 paper

NM_005137.3

p.D52_G53insFs

c.156_157ins4

1 paper

NM_005137.3

p.W54L

c.161G>T

1 paper

NM_005137.3

p.C44C

c.132C>T

1 paper

NM_005137.3

p.A55insFs

c.163dupG

1 paper

NM_005137.3

p.C44Y

c.131G>A

1 paper

NM_005137.3

p.I42T

c.125T>C

1 paper

NM_005137.3

p.D59E

c.177T>G

2 papers

NM_005137.3

p.D59E

c.177T>A

1 paper

NM_005137.3

p.E63G

c.188A>G

2 papers

NM_005137.3

p.A64T

c.190G>A

1 paper

NM_005137.3

p.C30S

c.89G>C

1 paper

NM_005137.3

p.C30S

c.88T>A