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.L81H

c.242T>A

Surrounding Variants

1 paper

NM_001017420.3

p.S82insFs

c.244_245dupTC

4 papers

NM_001017420.3

p.A80V

c.239C>T

1 paper

NM_001017420.3

p.T83fs

c.247_248fs

1 paper

NM_001017420.3

p.S79insFs

c.236_237insG

2 papers

NM_001017420.3

p.V84_S85delFs

c.252_253delAT

1 paper

NM_001017420.3

p.V84delFs

c.252delA

1 paper

NM_001017420.3

p.Q89H

c.267A>T

1 paper

NM_001017420.3

p.W92*

c.275G>A

1 paper

NM_001017420.3

p.W92*

c.276G>A

1 paper

NM_001017420.3

p.P69S

c.205C>T

6 papers

NM_001017420.3

p.E98_R99delFs

c.294_297del4

2 papers

NM_001017420.3

p.R99fs

c.295_296fs