Varaico: Literature-Extracted Genetic Variants

Gene:APEX1

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
1–12 of 276 variants
382 papers
NM_001641.4
p.D148E
c.444T>G
376 papers
NM_001641.4
p.D148E
c.444T>A
38 papers
NM_001641.4
p.Q51H
c.153G>C
38 papers
NM_001641.4
p.Q51H
c.153G>T
32 papers
NM_001641.4
p.I64V
c.190A>G
26 papers
NM_001641.4
p.G241R
c.721G>A
26 papers
NM_001641.4
p.G241R
c.721G>C
20 papers
NM_001641.4
p.L104R
c.311T>G
19 papers
NM_001641.4
p.D210N
c.628G>A
18 papers
NM_001641.4
p.R237C
c.709C>T
16 papers
NM_001641.4
p.E126D
c.378A>C
16 papers
NM_001641.4
p.E126D
c.378A>T
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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."