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.A521delFs

c.1562delC

Surrounding Variants

1 paper

NM_001017420.3

p.A521fs

c.1561_1562fs

1 paper

NM_001017420.3

p.A521V

c.1562C>T

1 paper

NM_001017420.3

p.Q523*

c.1567C>T

1 paper

NM_001017420.3

p.C518*

c.1554T>A

1 paper

NM_001017420.3

p.S525*

c.1574C>A

1 paper

NM_001017420.3

p.S525*

c.1574C>G

1 paper

NM_001017420.3

p.T516Fs

c.1548delinsTCFs

1 paper

NM_001017420.3

p.E511V

c.1532A>T

4 papers

NM_001017420.3

p.C533insFs

c.1597dupT

2 papers

NM_001017420.3

p.I508V

c.1522A>G

1 paper

NM_001017420.3

p.R537K

c.1610G>A

16 papers

NM_001017420.3

p.W539G

c.1615T>G