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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:APEX1

Variant:p.D152A

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr14:20457006 A>C

NM_001641.4

p.D152A

c.455A>C

Exo_endo_phos

Exome: 0.0% (AC=27, hom=0)Genome: 0.0% (AC=2, hom=0)3 overlapping SVs

Surrounding Variants

1 paper

chr14:20457005 G>A

NM_001641.4

p.D152N

c.454G>A

Exo_endo_phos

exact variant not in gnomAD3 overlapping SVs

1 paper

chr14:20457008 C>T

NM_001641.4

p.Q153*

c.457C>T

Exo_endo_phos

Exome: 0.0% (AC=9, hom=0)Genome: 0.0% (AC=2, hom=0)3 overlapping SVs

1 paper

chr14:20457011 G>A

NM_001641.4

p.E154K

c.460G>A

Exo_endo_phos

Exome: n/aGenome: 0.0% (AC=2, hom=0)3 overlapping SVs

1 paper

chr14:20457000 A>G

NM_001641.4

p.E150G

c.449A>G

Exo_endo_phos

Exome: 0.0% (AC=73, hom=0)Genome: 0.0% (AC=2, hom=0)3 overlapping SVs

1 paper

chr14:20457012 A>G

NM_001641.4

p.E154G

c.461A>G

Exo_endo_phos

exact variant not in gnomAD3 overlapping SVs

1 paper

chr14:20456999 G>A

NM_001641.4

p.E150K

c.448G>A

Exo_endo_phos

Exome: 0.0% (AC=2, hom=0)Genome: n/a3 overlapping SVs

1 paper

chr14:20456999 G>C

NM_001641.4

p.E150Q

c.448G>C

Exo_endo_phos

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=1, hom=0)3 overlapping SVs

2 papers

chr14:20456996 G>A

NM_001641.4

p.E149K

c.445G>A

Exo_endo_phos

Exome: 0.0% (AC=132, hom=3)Genome: 0.0% (AC=12, hom=0)3 overlapping SVs

376 papers

chr14:20456995 T>A

NM_001641.4

p.D148E

c.444T>A

Exo_endo_phos

Exome: 0.0% (AC=2, hom=0)Genome: n/a3 overlapping SVs

382 papers

chr14:20456995 T>G

NM_001641.4

p.D148E

c.444T>G

Exo_endo_phos

Exome: 45.5% (AC=664499, hom=154736)Genome: 42.8% (AC=65134, hom=14357)3 overlapping SVs

1 paper

chr14:20456994 A>G

NM_001641.4

p.D148G

c.443A>G

Exo_endo_phos

exact variant not in gnomAD3 overlapping SVs

2 papers

chr14:20457018 G>A

NM_001641.4

p.R156Q

c.467G>A

Exo_endo_phos

Exome: 0.0% (AC=73, hom=0)Genome: 0.0% (AC=2, hom=0)3 overlapping SVs

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