Varaico: Literature-Extracted Genetic Variants

Gene:APEX1
Variant:p.S115F

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.S115F
c.344C>T
Surrounding Variants
1 paper
NM_001641.4
p.S115C
c.344C>G
1 paper
NM_001641.4
p.H116Y
c.346C>T
1 paper
NM_001641.4
p.L114F
c.340C>T
1 paper
NM_001641.4
p.H116Q
c.348T>A
1 paper
NM_001641.4
p.H116Q
c.348T>G
1 paper
NM_001641.4
p.G113V
c.338G>T
1 paper
NM_001641.4
p.P112R
c.335C>G
6 papers
NM_001641.4
p.P112L
c.335C>T
1 paper
NM_001641.4
p.L111L
c.333G>A
2 papers
NM_001641.4
p.W119R
c.355T>A
2 papers
NM_001641.4
p.W119R
c.355T>C
3 papers
NM_001641.4
p.E110G
c.329A>G
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