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.K156T

c.467A>C

Surrounding Variants

1 paper

NM_001017420.3

p.P157S

c.469C>T

1 paper

NM_001017420.3

p.H154R

c.461A>G

2 papers

NM_001017420.3

p.N164insFs

c.491dupA

1 paper

NM_001017420.3

p.S165P

c.493T>C

1 paper

NM_001017420.3

p.K166_V170del5

c.496_509del15

6 papers

NM_001017420.3

p.R169*

c.505C>T

2 papers

NM_001017420.3

p.Q141H

c.423G>C

2 papers

NM_001017420.3

p.Q141H

c.423G>T

1 paper

NM_001017420.3

p.I171insFs

c.512_513insGC

1 paper

NM_001017420.3

p.I175V

c.523A>G

3 papers

NM_001017420.3

p.K139insFs

c.417dupA

1 paper

NM_001017420.3

p.K139delFs

c.417delA