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

3 papers

NM_001017420.3

p.R193W

c.577C>T

Surrounding Variants

1 paper

NM_001017420.3

p.P192L

c.575C>T

1 paper

NM_001017420.3

p.N190S

c.569A>G

1 paper

NM_001017420.3

p.P201delins

c.601_602delinsGG

2 papers

NM_001017420.3

p.Q202*

c.604C>T

1 paper

NM_001017420.3

p.N180N

c.540T>C

1 paper

NM_001017420.3

p.E179*

c.535G>T

1 paper

NM_001017420.3

p.G208G

c.624A>G

1 paper

NM_001017420.3

p.F212insFs

c.636dupT

1 paper

NM_001017420.3

p.I175V

c.523A>G

2 papers

NM_001017420.3

p.V213fs

c.637_638fs

1 paper

NM_001017420.3

p.R214insFs

c.642dupA

1 paper

NM_001017420.3

p.I171insFs

c.512_513insGC