Varaico: Literature-Extracted Genetic Variants

Gene:APEX1
Variant:p.A263P

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.A263P
c.787G>C
Surrounding Variants
1 paper
NM_001641.4
p.Y262Y
c.786T>C
1 paper
NM_001641.4
p.T265T
c.795C>A
1 paper
NM_001641.4
p.W267G
c.799T>G
1 paper
NM_001641.4
p.P258P
c.774C>T
1 paper
NM_001641.4
p.Y269Y
c.807T>C
2 papers
NM_001641.4
p.M270T
c.809T>C
1 paper
NM_001641.4
p.A273G
c.818C>G
2 papers
NM_001641.4
p.R274Q
c.821G>A
1 paper
NM_001641.4
p.D251N
c.751G>A
2 papers
NM_001641.4
p.P248L
c.743C>T
1 paper
NM_001641.4
p.W280S
c.839G>C
1 paper
NM_001641.4
p.Q245R
c.734A>G
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