Varaico: Literature-Extracted Genetic Variants

ESCO2

177 papers

RefSeq Summary

This gene encodes a protein that may have acetyltransferase activity and may be required for the establishment of sister chromatid cohesion during the S phase of mitosis. Mutations in this gene have b...

Pfam Domains

zf-C2H2_3aa 374–413UCSCzinc-finger of acetyl-transferase ESCO

Acetyltransf_13aa 529–597UCSCESCO1/2 acetyl-transferase

Gene Aliases

HGNC Name

establishment of sister chromatid cohesion N-acetyltransferase 2

HGNC Previous Symbol

RBS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001017420.3

p.A59V

c.176C>T

Surrounding Variants

1 paper

NM_001017420.3

p.L60P

c.179T>C

1 paper

NM_001017420.3

p.V56_L57delFs

c.166_170del5

1 paper

NM_001017420.3

p.Q51*

c.151C>T

2 papers

NM_001017420.3

p.C49W

c.147C>G

1 paper

NM_001017420.3

p.P69S

c.205C>T

1 paper

NM_001017420.3

p.N46T

c.137A>C

1 paper

NM_001017420.3

p.N46I

c.137A>T

2 papers

NM_001017420.3

p.E44K

c.130G>A

1 paper

NM_001017420.3

p.N43insFs

c.129dupT

1 paper

NM_001017420.3

p.S79insFs

c.236_237insG

4 papers

NM_001017420.3

p.A80V

c.239C>T

1 paper

NM_001017420.3

p.S82insFs

c.244_245dupTC