Varaico: Literature-Extracted Genetic Variants

Gene:APEX1
Variant:p.P311S

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
14 papers
NM_001641.4
p.P311S
c.931C>T
Surrounding Variants
1 paper
NM_001641.4
p.C310*
c.930T>A
1 paper
NM_001641.4
p.C310W
c.930T>G
4 papers
NM_001641.4
p.C310S
c.929G>C
4 papers
NM_001641.4
p.C310S
c.928T>A
4 papers
NM_001641.4
p.T313A
c.937A>G
8 papers
NM_001641.4
p.H309N
c.925C>A
1 paper
NM_001641.4
p.H309Y
c.925C>T
1 paper
NM_001641.4
p.D308D
c.924T>C
7 papers
NM_001641.4
p.D308A
c.923A>C
1 paper
NM_001641.4
p.D308V
c.923A>T
1 paper
NM_001641.4
p.L314I
c.940C>A
11 papers
NM_001641.4
p.G306A
c.917G>C
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