Varaico: Literature-Extracted Genetic Variants

Gene:ESCO1
Variant:p.T253N

ESCO1

71 papers

Pfam Domains

zf-C2H2_3aa 604–643UCSCzinc-finger of acetyl-transferase ESCO
Acetyltransf_13aa 763–831UCSCESCO1/2 acetyl-transferase

Gene Aliases

HGNC Name

establishment of sister chromatid cohesion N-acetyltransferase 1

HGNC Alias Symbols

ESO1; EFO1; KIAA1911

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_052911.3
p.T253N
c.758C>A
Surrounding Variants
1 paper
NM_052911.3
p.M251insFs
c.751_752insA
1 paper
NM_052911.3
p.L276V
c.826C>G
1 paper
NM_052911.3
p.Q229P
c.686A>C
4 papers
NM_052911.3
p.T221M
c.662C>T
1 paper
NM_052911.3
p.S288C
c.862A>T
1 paper
NM_052911.3
p.N290D
c.868A>G
1 paper
NM_052911.3
p.E309*
c.925G>T
1 paper
NM_052911.3
p.V197E
c.590T>A
3 papers
NM_052911.3
p.N191S
c.572A>G
1 paper
NM_052911.3
p.E315_S316insFs
c.945_946insC
1 paper
NM_052911.3
p.N318insFs
c.952_953insA
1 paper
NM_052911.3
p.E188K
c.562G>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."