Varaico: Literature-Extracted Genetic Variants

Gene:ESS2
Variant:p.D194N

ESS2

63 papers

RefSeq Summary

This gene is located within the minimal DGS critical region (MDGCR) thought to contain the gene(s) responsible for a group of developmental disorders. These disorders include DiGeorge syndrome, veloca...

Pfam Domains

Es2aa 34–401UCSCNuclear protein Es2

Gene Aliases

HGNC Name

ess-2 spliceosome associated protein

HGNC Previous Symbols

DGCR13; DGCR14

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_022719.3
p.D194N
c.580G>A
Surrounding Variants
1 paper
NM_022719.3
p.Q192*
c.574C>T
1 paper
NM_022719.3
p.A205T
c.613G>A
1 paper
NM_022719.3
p.S212N
c.635G>A
1 paper
NM_022719.3
p.G230Splc
c.688+6T>C
2 papers
NM_022719.3
p.A179T
c.535G>A
1 paper
NM_022719.3
p.R175Q
c.524G>A
1 paper
NM_022719.3
p.E168K
c.502G>A
2 papers
NM_022719.3
p.N160S
c.479A>G
1 paper
NM_022719.3
p.S147G
c.439A>G
1 paper
NM_022719.3
p.E138K
c.412G>A
1 paper
NM_022719.3
p.D233E
c.699C>G
1 paper
NM_022719.3
p.D233E
c.699C>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."