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

2 papers

NM_001017420.3

p.R99fs

c.295_296fs

Surrounding Variants

2 papers

NM_001017420.3

p.R99fs

c.295_296fs

6 papers

NM_001017420.3

p.E98_R99delFs

c.294_297del4

2 papers

NM_001017420.3

p.K103delFs

c.308_309delAA

3 papers

NM_001017420.3

p.K103_E104delFs

c.307_311del5

1 paper

NM_001017420.3

p.K103fs

c.307_308fs

1 paper

NM_001017420.3

p.W92*

c.276G>A

1 paper

NM_001017420.3

p.W92*

c.275G>A

1 paper

NM_001017420.3

p.Q89H

c.267A>T

1 paper

NM_001017420.3

p.T112S

c.334A>T

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.V84delFs

c.252delA