Varaico: Literature-Extracted Genetic Variants

Gene:APEX1
Variant:p.Y171H

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
3 papers
NM_001641.4
p.Y171H
c.511T>C
Surrounding Variants
1 paper
NM_001641.4
p.Y171N
c.511T>A
6 papers
NM_001641.4
p.Y171F
c.512A>T
3 papers
NM_001641.4
p.A170V
c.509C>T
2 papers
NM_001641.4
p.N174D
c.520A>G
1 paper
NM_001641.4
p.N174K
c.522T>A
1 paper
NM_001641.4
p.N174K
c.522T>G
1 paper
NM_001641.4
p.G176A
c.527G>C
1 paper
NM_001641.4
p.R177*
c.529C>T
1 paper
NM_001641.4
p.R177Q
c.530G>A
1 paper
NM_001641.4
p.D163E
c.489C>A
1 paper
NM_001641.4
p.D163E
c.489C>G
1 paper
NM_001641.4
p.G178V
c.533G>T
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