Varaico: Literature-Extracted Genetic Variants

Gene:ESS2

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
1–12 of 50 variants
2 papers
NM_022719.3
p.A31V
c.92C>T
2 papers
NM_022719.3
p.E60V
c.179A>T
2 papers
NM_022719.3
p.P99L
c.296C>T
2 papers
NM_022719.3
p.N160S
c.479A>G
2 papers
NM_022719.3
p.A179T
c.535G>A
2 papers
NM_022719.3
p.P241L
c.722C>T
2 papers
NM_022719.3
p.P308R
c.923C>G
1 paper
NM_022719.3
p.M1I
c.3G>A
1 paper
NM_022719.3
p.P4insFs
c.11dupC
1 paper
NM_022719.3
p.L11F
c.33G>T
1 paper
NM_022719.3
p.L12F
c.36G>C
1 paper
NM_022719.3
p.Q52R
c.155A>G
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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."