Varaico: Literature-Extracted Genetic Variants

Gene:APEX1
Variant:p.D283G

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
10 papers
NM_001641.4
p.D283G
c.848A>G
Surrounding Variants
3 papers
NM_001641.4
p.D283A
c.848A>C
6 papers
NM_001641.4
p.D283N
c.847G>A
1 paper
NM_001641.4
p.W280S
c.839G>C
2 papers
NM_001641.4
p.L291delFs
c.871_872delCT
3 papers
NM_001641.4
p.L291fs
c.871_872fs
3 papers
NM_001641.4
p.L291insFs
c.872dupT
2 papers
NM_001641.4
p.R274Q
c.821G>A
1 paper
NM_001641.4
p.A273G
c.818C>G
2 papers
NM_001641.4
p.C296S
c.886T>A
2 papers
NM_001641.4
p.C296S
c.887G>C
2 papers
NM_001641.4
p.M270T
c.809T>C
1 paper
NM_001641.4
p.Y269Y
c.807T>C
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