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.D288fs

c.862_863fs

Surrounding Variants

5 papers

NM_001017420.3

p.D292_R293delFs

c.876_879del4

2 papers

NM_001017420.3

p.D292fs

c.874_875fs

1 paper

NM_001017420.3

p.R293insFs

c.877dupA

10 papers

NM_001017420.3

p.R293delFs

c.877_878delAG

5 papers

NM_001017420.3

p.V294_K297del4

c.880_890del12

1 paper

NM_001017420.3

p.F307_D311del5

c.919_932del15

1 paper

NM_001017420.3

p.S308_S309del2

c.922_926del6

1 paper

NM_001017420.3

p.K317R

c.950A>G

1 paper

NM_001017420.3

p.K287T

c.860A>C

1 paper

NM_001017420.3

p.C263*

c.789C>A

1 paper

NM_001017420.3

p.F255S

c.764T>C

1 paper

NM_001017420.3

p.F255fs

c.763_764fs