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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:APEX1

Variant:p.R185W

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

chr14:20457104 C>T

NM_001641.4

p.R185W

c.553C>T

Exo_endo_phos

Exome: 0.0% (AC=11, hom=0)Genome: 0.0% (AC=1, hom=0)3 overlapping SVs

Surrounding Variants

2 papers

chr14:20457111 G>A

NM_001641.4

p.R187H

c.560G>A

Exo_endo_phos

Exome: 0.0% (AC=425, hom=1)Genome: 0.0% (AC=31, hom=0)3 overlapping SVs

1 paper

chr14:20457093 G>A

NM_001641.4

p.R181Q

c.542G>A

Exo_endo_phos

Exome: 0.0% (AC=16, hom=0)Genome: 0.0% (AC=1, hom=0)3 overlapping SVs

1 paper

chr14:20457117 A>C

NM_001641.4

p.D189A

c.566A>C

Exo_endo_phos

exact variant not in gnomAD3 overlapping SVs

1 paper

chr14:20457089 G>C

NM_001641.4

p.V180L

c.538G>C

Exo_endo_phos

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

1 paper

chr14:20457089 G>T

NM_001641.4

p.V180L

c.538G>T

Exo_endo_phos

exact variant not in gnomAD3 overlapping SVs

1 paper

chr14:20457084 G>T

NM_001641.4

p.G178V

c.533G>T

Exo_endo_phos

Exome: 0.0% (AC=1, hom=0)Genome: n/a3 overlapping SVs

1 paper

chr14:20457081 G>A

NM_001641.4

p.R177Q

c.530G>A

Exo_endo_phos

Exome: 0.0% (AC=33, hom=0)Genome: 0.0% (AC=7, hom=0)3 overlapping SVs

1 paper

chr14:20457080 C>T

NM_001641.4

p.R177*

c.529C>T

Exo_endo_phos

Exome: 0.0% (AC=7, hom=0)Genome: 0.0% (AC=2, hom=0)3 overlapping SVs

1 paper

chr14:20457129 G>A

NM_001641.4

p.R193H

c.578G>A

Exo_endo_phos

Exome: 0.0% (AC=47, hom=0)Genome: 0.0% (AC=8, hom=0)3 overlapping SVs

1 paper

chr14:20457078 G>C

NM_001641.4

p.G176A

c.527G>C

Exo_endo_phos

exact variant not in gnomAD3 overlapping SVs

1 paper

chr14:20457073 T>A

NM_001641.4

p.N174K

c.522T>A

Exo_endo_phos

Exome: 0.0% (AC=1, hom=0)Genome: n/a3 overlapping SVs

1 paper

chr14:20457073 T>G

NM_001641.4

p.N174K

c.522T>G

Exo_endo_phos

exact variant not in gnomAD3 overlapping SVs

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