Varaico: Literature-Extracted Genetic Variants

Gene:APEX1
Variant:p.K125*

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.K125*
c.373A>T
Surrounding Variants
1 paper
NM_001641.4
p.D124_K125insFs
c.372_373ins4
1 paper
NM_001641.4
p.D124G
c.371A>G
1 paper
NM_001641.4
p.D124insFs
c.370_371insA
1 paper
NM_001641.4
p.D124Y
c.370G>T
1 paper
NM_001641.4
p.E126A
c.377A>C
1 paper
NM_001641.4
p.E126G
c.377A>G
16 papers
NM_001641.4
p.E126D
c.378A>C
16 papers
NM_001641.4
p.E126D
c.378A>T
1 paper
NM_001641.4
p.S123W
c.368C>G
1 paper
NM_001641.4
p.G127V
c.380G>T
1 paper
NM_001641.4
p.P122S
c.364C>T
1 paper
NM_001641.4
p.Y128H
c.382T>C
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