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

1–12 of 173 variants

16 papers

NM_001017420.3

p.W539G

c.1615T>G

11 papers

NM_001017420.3

p.T254insFs

c.760dupA

10 papers

NM_001017420.3

p.R293delFs

c.877_878delAG

8 papers

NM_001017420.3

p.T254fs

c.760_761fs

7 papers

NM_001017420.3

p.E251delFs

c.752delA

7 papers

NM_001017420.3

p.T371insFs

c.1111dupA

7 papers

NM_001017420.3

p.I377_D378Splc

c.1131+1G>A

7 papers

NM_001017420.3

p.I377_D378Splc

c.1132-7A>G

6 papers

NM_001017420.3

p.E98_R99delFs

c.294_297del4

6 papers

NM_001017420.3

p.R169*

c.505C>T

5 papers

NM_001017420.3

p.D292_R293delFs

c.876_879del4

5 papers

NM_001017420.3

p.V294_K297del4

c.880_890del12