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

1–12 of 130 variants

4 papers

NM_005137.3

p.P429R

c.1286C>G

3 papers

NM_005137.3

p.I192I

c.576C>T

2 papers

NM_005137.3

p.D59E

c.177T>A

2 papers

NM_005137.3

p.A64T

c.190G>A

2 papers

NM_005137.3

p.G442S

c.1324G>A

2 papers

NM_005137.3

p.D466D

c.1398C>T

2 papers

NM_005137.3

p.V473A

c.1418T>C

1 paper

NM_005137.3

p.M1insFs

c.1_2insT

1 paper

NM_005137.3

p.M1insFs

c.2dupT

1 paper

NM_005137.3

p.K4insFs

c.11dupA

1 paper

NM_005137.3

p.K4_S7insFs

c.12_19dup8

1 paper

NM_005137.3

p.F10insFs

c.28_29ins13