Varaico: Literature-Extracted Genetic Variants

Gene:APEX1
Variant:p.C93S

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.C93S
c.277T>A
Surrounding Variants
1 paper
NM_001641.4
p.C93S
c.278G>C
1 paper
NM_001641.4
p.I91M
c.273A>G
4 papers
NM_001641.4
p.D90A
c.269A>C
1 paper
NM_001641.4
p.D90G
c.269A>G
10 papers
NM_001641.4
p.E96Q
c.286G>C
13 papers
NM_001641.4
p.E96A
c.287A>C
1 paper
NM_001641.4
p.P89S
c.265C>T
1 paper
NM_001641.4
p.K98E
c.292A>G
1 paper
NM_001641.4
p.A88T
c.262G>A
4 papers
NM_001641.4
p.K98R
c.293A>G
2 papers
NM_001641.4
p.E87Q
c.259G>C
3 papers
NM_001641.4
p.C99S
c.295T>A
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