Varaico: Literature-Extracted Genetic Variants

Gene:ESS2
Variant:p.P308R

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
2 papers
NM_022719.3
p.P308R
c.923C>G
Surrounding Variants
1 paper
NM_022719.3
p.A307A
c.921C>T
1 paper
NM_022719.3
p.A307V
c.920C>T
1 paper
NM_022719.3
p.P293S
c.877C>T
1 paper
NM_022719.3
p.G281S
c.841G>A
1 paper
NM_022719.3
p.N323I
c.968A>T
1 paper
NM_022719.3
p.T333T
c.999G>A
1 paper
NM_022719.3
p.V336M
c.1006G>A
1 paper
NM_022719.3
p.A270T
c.808G>A
1 paper
NM_022719.3
p.A269T
c.805G>A
1 paper
NM_022719.3
p.S257I
c.770G>T
1 paper
NM_022719.3
p.P255S
c.763C>T
2 papers
NM_022719.3
p.P241L
c.722C>T
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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."