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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ALKBH3

ALKBH3

69 papers

RefSeq Summary

The Escherichia coli AlkB protein protects against the cytotoxicity of methylating agents by repair of the specific DNA lesions generated in single-stranded DNA. ALKBH2 (MIM 610602) and ALKBH3 are E. ...

Pfam Domains

2OG-FeII_Oxy_2aa 89–275UCSC2OG-Fe(II) oxygenase superfamily

Gene Aliases

HGNC Name

alkB homolog 3, alpha-ketoglutarate dependent dioxygenase

HGNC Alias Symbol

DEPC-1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 91 variants

11 papers

chr11:43901546 C>T

NM_139178.4

p.R164C

c.490C>T

2OG-FeII_Oxy_2

Exome: 0.6% (AC=8142, hom=34)Genome: 0.4% (AC=670, hom=7)20 overlapping SVs

11 papers

chr11:43919052 C>A

NM_139178.4

p.D228E

c.684C>A

2OG-FeII_Oxy_2

exact variant not in gnomAD19 overlapping SVs

11 papers

chr11:43919052 C>G

NM_139178.4

p.D228E

c.684C>G

2OG-FeII_Oxy_2

Exome: 23.5% (AC=341733, hom=42940)Genome: 18.9% (AC=28830, hom=3105)19 overlapping SVs

6 papers

chr11:43884007 C>T

NM_139178.4

p.R70*

c.208C>T

Exome: 0.1% (AC=1485, hom=0)Genome: 0.1% (AC=147, hom=1)20 overlapping SVs

6 papers

chr11:43901634 A>C

NM_139178.4

p.D193A

c.578A>C

2OG-FeII_Oxy_2

exact variant not in gnomAD20 overlapping SVs

6 papers

chr11:43919045 A>G

NM_139178.4

p.N226S

c.677A>G

2OG-FeII_Oxy_2

Exome: 0.2% (AC=2761, hom=11)Genome: 0.1% (AC=178, hom=0)19 overlapping SVs

4 papers

chr11:43901621 G>A

NM_139178.4

p.D189N

c.565G>A

2OG-FeII_Oxy_2

Exome: 0.1% (AC=1379, hom=1)Genome: 0.1% (AC=91, hom=0)20 overlapping SVs

3 papers

chr11:43901622 A>C

NM_139178.4

p.D189A

c.566A>C

2OG-FeII_Oxy_2

Exome: 0.0% (AC=1, hom=0)Genome: n/a20 overlapping SVs

3 papers

chr11:43901693 C>T

NM_139178.4

p.R213C

c.637C>T

2OG-FeII_Oxy_2

Exome: 0.0% (AC=72, hom=0)Genome: 0.0% (AC=30, hom=0)20 overlapping SVs

2 papers

chr11:43882671 C>T

NM_139178.4

p.R7*

c.19C>T

Exome: 0.0% (AC=109, hom=0)Genome: 0.0% (AC=14, hom=0)19 overlapping SVs

2 papers

chr11:43883120 G>T

NM_139178.4

p.G39C

c.115G>T

Exome: 0.0% (AC=304, hom=1)Genome: 0.2% (AC=304, hom=1)19 overlapping SVs

2 papers

chr11:43883141 G>C

NM_139178.4

p.E46Q

c.136G>C

Exome: 0.1% (AC=811, hom=5)Genome: 0.0% (AC=64, hom=3)19 overlapping SVs

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