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.T123A

c.367A>G

Surrounding Variants

3 papers

NM_001017420.3

p.G128R

c.382G>A

3 papers

NM_001017420.3

p.G128R

c.382G>C

1 paper

NM_001017420.3

p.K117K

c.351A>G

1 paper

NM_001017420.3

p.K117E

c.349A>G

1 paper

NM_001017420.3

p.D116N

c.346G>A

1 paper

NM_001017420.3

p.P130L

c.389C>T

1 paper

NM_001017420.3

p.E115A

c.344A>C

1 paper

NM_001017420.3

p.D114A

c.341A>C

1 paper

NM_001017420.3

p.T112N

c.335C>A

1 paper

NM_001017420.3

p.T112S

c.335C>G

1 paper

NM_001017420.3

p.T112S

c.334A>T

3 papers

NM_001017420.3

p.K139insFs

c.417dupA