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.R232C

c.694C>T

Surrounding Variants

1 paper

NM_001017420.3

p.T233A

c.697A>G

1 paper

NM_001017420.3

p.S236_K237insG

c.706_710ins3

1 paper

NM_001017420.3

p.K221I

c.662A>T

1 paper

NM_001017420.3

p.R220K

c.659G>A

2 papers

NM_001017420.3

p.T248A

c.742A>G

4 papers

NM_001017420.3

p.V249delFs

c.745_746delGT

1 paper

NM_001017420.3

p.R214insFs

c.642dupA

2 papers

NM_001017420.3

p.S250_E251insFs

c.750_751insA

4 papers

NM_001017420.3

p.E251insFs

c.751dupG

11 papers

NM_001017420.3

p.T254insFs

c.760dupA

2 papers

NM_001017420.3

p.V213fs

c.637_638fs

7 papers

NM_001017420.3

p.E251delFs

c.752delA