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.E452delFs

c.1354delC

Surrounding Variants

1 paper

NM_005137.3

p.P448delFs

c.1343delG

1 paper

NM_005137.3

p.D446insFs

c.1338dupC

1 paper

NM_005137.3

p.P457T

c.1369C>A

1 paper

NM_005137.3

p.G442delFs

c.1325delC

2 papers

NM_005137.3

p.G442S

c.1324G>A

1 paper

NM_005137.3

p.P464L

c.1391C>T

1 paper

NM_005137.3

p.A435S

c.1303G>T

1 paper

NM_005137.3

p.P431P

c.1293T>C

4 papers

NM_005137.3

p.P429R

c.1286C>G

1 paper

NM_005137.3

p.D428H

c.1282G>C

1 paper

NM_005137.3

p.T423I

c.1268C>T

1 paper

NM_005137.3

p.S416P

c.1246T>C