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.T254fs

c.760_761fs

Surrounding Variants

8 papers

NM_001017420.3

p.T254fs

c.760_761fs

1 paper

NM_001017420.3

p.T254insFs

c.761_762insA

3 papers

NM_001017420.3

p.F255delFs

c.764_765delTT

1 paper

NM_001017420.3

p.K253Q

c.757A>C

1 paper

NM_001017420.3

p.F255fs

c.763_764fs

1 paper

NM_001017420.3

p.F255S

c.764T>C

11 papers

NM_001017420.3

p.T254insFs

c.760dupA

7 papers

NM_001017420.3

p.E251delFs

c.752delA

1 paper

NM_001017420.3

p.K252del1

c.754_755delAAA

2 papers

NM_001017420.3

p.S250_E251insFs

c.750_751insA

4 papers

NM_001017420.3

p.E251insFs

c.751dupG

4 papers

NM_001017420.3

p.V249delFs

c.745_746delGT