Varaico: Literature-Extracted Genetic Variants

Gene:APEX1
Variant:p.S54P

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.S54P
c.160T>C
Surrounding Variants
1 paper
NM_001641.4
p.P55insFs
c.165dupC
1 paper
NM_001641.4
p.P55delFs
c.165delC
1 paper
NM_001641.4
p.P55A
c.163C>G
1 paper
NM_001641.4
p.K52E
c.154A>G
1 paper
NM_001641.4
p.S56C
c.166A>T
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.G57C
c.169G>T
1 paper
NM_001641.4
p.G57A
c.170G>C
1 paper
NM_001641.4
p.D50fs
c.148_149fs
2 papers
NM_001641.4
p.A60G
c.179C>G
1 paper
NM_001641.4
p.P49insFs
c.146dupC
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