Varaico: Literature-Extracted Genetic Variants

Gene:APEX1
Variant:p.W75C

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.W75C
c.225G>T
Surrounding Variants
3 papers
NM_001641.4
p.K77N
c.231G>C
1 paper
NM_001641.4
p.R73*
c.217C>T
1 paper
NM_001641.4
p.L72H
c.215T>A
2 papers
NM_001641.4
p.G80R
c.238G>A
1 paper
NM_001641.4
p.G80R
c.238G>C
2 papers
NM_001641.4
p.G80*
c.238G>T
5 papers
NM_001641.4
p.D70A
c.209A>C
1 paper
NM_001641.4
p.D70G
c.209A>G
1 paper
NM_001641.4
p.D70N
c.208G>A
2 papers
NM_001641.4
p.N68D
c.202A>G
1 paper
NM_001641.4
p.W67R
c.199T>A
1 paper
NM_001641.4
p.W67R
c.199T>C
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