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.K372E

c.1114A>G

Surrounding Variants

2 papers

NM_001017420.3

p.T371insFs

c.1111_1112insG

1 paper

NM_001017420.3

p.T371fs

c.1111_1112fs

1 paper

NM_001017420.3

p.T371fs

c.1111_1112fs

7 papers

NM_001017420.3

p.T371insFs

c.1111dupA

7 papers

NM_001017420.3

p.I377_D378Splc

c.1131+1G>A

3 papers

NM_001017420.3

p.R365K

c.1094G>A

1 paper

NM_001017420.3

p.Q355*

c.1063C>T

1 paper

NM_001017420.3

p.S339C

c.1016C>G

7 papers

NM_001017420.3

p.I377_D378Splc

c.1132-7A>G

1 paper

NM_001017420.3

p.I377_D378Splc

c.1132-1G>T

1 paper

NM_001017420.3

p.G380_F384del0

c.1138_1152del15

1 paper

NM_001017420.3

p.Y396F

c.1187A>T