Varaico: Literature-Extracted Genetic Variants

Gene:APEX1
Variant:p.E46K

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.E46K
c.136G>A
Surrounding Variants
1 paper
NM_001641.4
p.D47fs
c.139_140fs
1 paper
NM_001641.4
p.P49insFs
c.146dupC
1 paper
NM_001641.4
p.D47A
c.140A>C
1 paper
NM_001641.4
p.D47G
c.140A>G
1 paper
NM_001641.4
p.D47delFs
c.141delC
1 paper
NM_001641.4
p.A43V
c.128C>T
1 paper
NM_001641.4
p.D50fs
c.148_149fs
1 paper
NM_001641.4
p.G41V
c.122G>T
1 paper
NM_001641.4
p.G41S
c.121G>A
38 papers
NM_001641.4
p.Q51H
c.153G>C
38 papers
NM_001641.4
p.Q51H
c.153G>T
1 paper
NM_001641.4
p.K52E
c.154A>G
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