Varaico: Literature-Extracted Genetic Variants

Gene:APEX1
Variant:p.G241R

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
26 papers
NM_001641.4
p.G241R
c.721G>A
Surrounding Variants
26 papers
NM_001641.4
p.G241R
c.721G>C
1 paper
NM_001641.4
p.F240S
c.719T>C
1 paper
NM_001641.4
p.E242*
c.724G>T
1 paper
NM_001641.4
p.R237H
c.710G>A
18 papers
NM_001641.4
p.R237C
c.709C>T
1 paper
NM_001641.4
p.Q245R
c.734A>G
1 paper
NM_001641.4
p.P234A
c.700C>G
2 papers
NM_001641.4
p.P248L
c.743C>T
1 paper
NM_001641.4
p.T233S
c.697A>T
1 paper
NM_001641.4
p.G231D
c.692G>A
1 paper
NM_001641.4
p.G231S
c.691G>A
1 paper
NM_001641.4
p.D251N
c.751G>A
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