Varaico: Literature-Extracted Genetic Variants

Gene:DGCR6

DGCR6

19 papers

RefSeq Summary

DiGeorge syndrome, and more widely, the CATCH 22 syndrome, are associated with microdeletions in chromosomal region 22q11.2. The product of this gene shares homology with the Drosophila melanogaster g...

Pfam Domains

DGCR6aa 2–195UCSCDiGeorge syndrome critical region 6 (DGCR6) protein

Gene Aliases

HGNC Name

DiGeorge syndrome critical region gene 6

Papers
RefSeq ID
Protein change
DNA change
1–12 of 13 variants
1 paper
NM_005675.6
p.A5A
c.15G>C
1 paper
NM_005675.6
p.Q29*
c.85C>T
1 paper
NM_005675.6
p.P36P
c.108C>G
1 paper
NM_005675.6
p.T47K
c.140C>A
1 paper
NM_005675.6
p.G58S
c.172G>A
1 paper
NM_005675.6
p.E62Q
c.184G>C
1 paper
NM_005675.6
p.Q81*
c.241C>T
1 paper
NM_005675.6
p.L83_L85ins1
c.249_254dup6
1 paper
NM_005675.6
p.V142I
c.424G>A
1 paper
NM_005675.6
p.K158*
c.472A>T
1 paper
NM_005675.6
p.I183V
c.547A>G
1 paper
NM_005675.6
p.R184Q
c.551G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."