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.Y188H

c.562T>C

Surrounding Variants

3 papers

NM_005137.3

p.I192I

c.576C>T

1 paper

NM_005137.3

p.T193S

c.577A>T

1 paper

NM_005137.3

p.T193S

c.578C>G

1 paper

NM_005137.3

p.T193delFs

c.577delT

1 paper

NM_005137.3

p.R197C

c.589C>T

1 paper

NM_005137.3

p.L199W

c.596T>G

1 paper

NM_005137.3

p.L199*

c.596T>A

1 paper

NM_005137.3

p.E200_G201delFs

c.599_602del4

1 paper

NM_005137.3

p.R182R

c.546C>A

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