Varaico: Literature-Extracted Genetic Variants

Gene:APEX1
Variant:p.K35N

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.K35N
c.105A>T
Surrounding Variants
1 paper
NM_001641.4
p.K35N
c.105A>C
1 paper
NM_001641.4
p.K35R
c.104A>G
1 paper
NM_001641.4
p.E36fs
c.106_107fs
1 paper
NM_001641.4
p.E36fs
c.106_107fs
7 papers
NM_001641.4
p.K35Q
c.103A>C
1 paper
NM_001641.4
p.K35E
c.103A>G
2 papers
NM_001641.4
p.K35insFs
c.105dupA
1 paper
NM_001641.4
p.D34A
c.101A>C
1 paper
NM_001641.4
p.A38T
c.112G>A
1 paper
NM_001641.4
p.A38S
c.112G>T
1 paper
NM_001641.4
p.A38V
c.113C>T
3 papers
NM_001641.4
p.G39E
c.116G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."