Varaico: Literature-Extracted Genetic Variants

Gene:APEX1
Variant:p.A60G

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
2 papers
NM_001641.4
p.A60G
c.179C>G
Surrounding Variants
1 paper
NM_001641.4
p.T61I
c.182C>T
1 paper
NM_001641.4
p.G57A
c.170G>C
1 paper
NM_001641.4
p.K63K
c.189G>A
1 paper
NM_001641.4
p.G57C
c.169G>T
32 papers
NM_001641.4
p.I64V
c.190A>G
7 papers
NM_001641.4
p.I64T
c.191T>C
1 paper
NM_001641.4
p.S56C
c.166A>T
10 papers
NM_001641.4
p.C65S
c.193T>A
9 papers
NM_001641.4
p.C65S
c.194G>C
1 paper
NM_001641.4
p.P55A
c.163C>G
1 paper
NM_001641.4
p.P55insFs
c.165dupC
1 paper
NM_001641.4
p.P55delFs
c.165delC
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