Varaico: Literature-Extracted Genetic Variants

Gene:APEX1
Variant:p.N212H

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.N212H
c.634A>C
Surrounding Variants
1 paper
NM_001641.4
p.N212K
c.636T>A
1 paper
NM_001641.4
p.N212K
c.636T>G
2 papers
NM_001641.4
p.D210E
c.630C>A
2 papers
NM_001641.4
p.D210E
c.630C>G
8 papers
NM_001641.4
p.D210A
c.629A>C
19 papers
NM_001641.4
p.D210N
c.628G>A
4 papers
NM_001641.4
p.D210H
c.628G>C
1 paper
NM_001641.4
p.D210fs
c.628_629fs
1 paper
NM_001641.4
p.G209insFs
c.625_626insGA
1 paper
NM_001641.4
p.C208S
c.623G>C
1 paper
NM_001641.4
p.C208S
c.622T>A
1 paper
NM_001641.4
p.C208G
c.622T>G
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