Varaico: Literature-Extracted Genetic Variants

Gene:APEX1
Variant:p.G231D

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.G231D
c.692G>A
Surrounding Variants
1 paper
NM_001641.4
p.G231S
c.691G>A
3 papers
NM_001641.4
p.G231C
c.691G>T
1 paper
NM_001641.4
p.T233S
c.697A>T
1 paper
NM_001641.4
p.P234A
c.700C>G
2 papers
NM_001641.4
p.K228T
c.683A>C
1 paper
NM_001641.4
p.K228R
c.683A>G
1 paper
NM_001641.4
p.K227Q
c.679A>C
1 paper
NM_001641.4
p.N226T
c.677A>C
18 papers
NM_001641.4
p.R237C
c.709C>T
1 paper
NM_001641.4
p.R237H
c.710G>A
1 paper
NM_001641.4
p.K224T
c.671A>C
1 paper
NM_001641.4
p.P223S
c.667C>T
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