Varaico: Literature-Extracted Genetic Variants

Gene:APEX1
Variant:p.P223S

APEX1

743 papers

RefSeq Summary

The APEX gene encodes the major AP endonuclease in human cells. It encodes the APEX endonuclease, a DNA repair enzyme with apurinic/apyrimidinic (AP) activity. Such AP activity sites occur frequently ...

Pfam Domains

Exo_endo_phosaa 65–309UCSCEndonuclease/Exonuclease/phosphatase family

Gene Aliases

HGNC Name

apurinic/apyrimidinic endodeoxyribonuclease 1

HGNC Alias Symbols

APE; REF1; APX; APEN; REF-1; APE-1; APE1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001641.4
p.P223S
c.667C>T
Surrounding Variants
3 papers
NM_001641.4
p.N222H
c.664A>C
1 paper
NM_001641.4
p.K224T
c.671A>C
1 paper
NM_001641.4
p.R221H
c.662G>A
3 papers
NM_001641.4
p.R221C
c.661C>T
1 paper
NM_001641.4
p.L220P
c.659T>C
1 paper
NM_001641.4
p.N226T
c.677A>C
1 paper
NM_001641.4
p.K227Q
c.679A>C
1 paper
NM_001641.4
p.D219Y
c.655G>T
1 paper
NM_001641.4
p.I218N
c.653T>A
1 paper
NM_001641.4
p.I218T
c.653T>C
1 paper
NM_001641.4
p.I218V
c.652A>G
2 papers
NM_001641.4
p.K228T
c.683A>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."