Varaico: Literature-Extracted Genetic Variants

Gene:APEX1
Variant:p.C138S

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.C138S
c.412T>A
Surrounding Variants
1 paper
NM_001641.4
p.C138Y
c.413G>A
2 papers
NM_001641.4
p.C138S
c.413G>C
1 paper
NM_001641.4
p.C138F
c.413G>T
1 paper
NM_001641.4
p.P139Q
c.416C>A
1 paper
NM_001641.4
p.R136C
c.406C>T
1 paper
NM_001641.4
p.L134delFs
c.400delC
1 paper
NM_001641.4
p.S143A
c.427T>G
1 paper
NM_001641.4
p.Y144*
c.432C>A
1 paper
NM_001641.4
p.Y144*
c.432C>G
1 paper
NM_001641.4
p.V131A
c.392T>C
2 papers
NM_001641.4
p.V131G
c.392T>G
1 paper
NM_001641.4
p.V131M
c.391G>A
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