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.H407L

c.1220A>T

Surrounding Variants

1 paper

NM_001017420.3

p.H410N

c.1228C>A

1 paper

NM_001017420.3

p.H411_H412insA

c.1231_1235ins3

1 paper

NM_001017420.3

p.H411D

c.1231C>G

1 paper

NM_001017420.3

p.H412Q

c.1236C>A

1 paper

NM_001017420.3

p.H412Q

c.1236C>G

1 paper

NM_001017420.3

p.E416K

c.1246G>A

1 paper

NM_001017420.3

p.G417_I418insA

c.1249_1253ins3

1 paper

NM_001017420.3

p.Y396F

c.1187A>T

2 papers

NM_001017420.3

p.V421_G422Splc

c.1263+1G>C

1 paper

NM_001017420.3

p.G380_F384del0

c.1138_1152del15

1 paper

NM_001017420.3

p.I377_D378Splc

c.1132-1G>T

7 papers

NM_001017420.3

p.I377_D378Splc

c.1132-7A>G