Varaico: Literature-Extracted Genetic Variants

Gene:APEX1
Variant:p.I218T

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.I218T
c.653T>C
Surrounding Variants
1 paper
NM_001641.4
p.I218N
c.653T>A
1 paper
NM_001641.4
p.I218V
c.652A>G
1 paper
NM_001641.4
p.D219Y
c.655G>T
1 paper
NM_001641.4
p.E217A
c.650A>C
1 paper
NM_001641.4
p.E216D
c.648A>T
1 paper
NM_001641.4
p.E216A
c.647A>C
1 paper
NM_001641.4
p.L220P
c.659T>C
3 papers
NM_001641.4
p.R221C
c.661C>T
1 paper
NM_001641.4
p.R221H
c.662G>A
3 papers
NM_001641.4
p.N222H
c.664A>C
1 paper
NM_001641.4
p.P223S
c.667C>T
1 paper
NM_001641.4
p.N212K
c.636T>A
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