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.A524insFs

c.1571dupC

Surrounding Variants

1 paper

NM_005137.3

p.D522insFs

c.1564dupG

1 paper

NM_005137.3

p.P521H

c.1562C>A

1 paper

NM_005137.3

p.V519delFs

c.1555_1556delAC

1 paper

NM_005137.3

p.A532V

c.1595C>T

1 paper

NM_005137.3

p.S514_S515insFs

c.1540_1544dup5

1 paper

NM_005137.3

p.G539R

c.1615G>C

1 paper

NM_005137.3

p.A534_S544delFs

c.1601_1631del31

1 paper

NM_005137.3

p.R492L

c.1475G>T

1 paper

NM_005137.3

p.L490F

c.1468C>T

1 paper

NM_005137.3

p.G487C

c.1459G>T

1 paper

NM_005137.3

p.D482H

c.1444G>C

3 papers

NM_001173533.2

p.V432A

c.1295T>C

NM_005137.3

p.V473A

c.1418T>C