Varaico: Literature-Extracted Genetic Variants

Gene:ALKBH2
Variant:p.K104_S107del4

ALKBH2

44 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 and ALKBH3 (MIM 610603) are E. ...

Pfam Domains

2OG-FeII_Oxy_2aa 67–254UCSC2OG-Fe(II) oxygenase superfamily

Gene Aliases

HGNC Name

alkB homolog 2, alpha-ketoglutarate dependent dioxygenase

HGNC Alias Symbols

MGC90512; ABH2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001145374.2
p.K104_S107del4
c.310_320del12
Surrounding Variants
2 papers
NM_001145374.2
p.G103R
c.307G>C
2 papers
NM_001145374.2
p.G103R
c.307G>A
1 paper
NM_001145374.2
p.T114K
c.341C>A
2 papers
NM_001145374.2
p.V101G
c.302T>G
3 papers
NM_001145374.2
p.V101A
c.302T>C
4 papers
NM_001145374.2
p.V99A
c.296T>C
2 papers
NM_001145374.2
p.A118T
c.352G>A
1 paper
NM_001145374.2
p.A97T
c.289G>A
1 paper
NM_001145374.2
p.T121N
c.362C>A
3 papers
NM_001145374.2
p.S125A
c.373T>G
1 paper
NM_001145374.2
p.S125L
c.374C>T
1 paper
NM_001145374.2
p.W134R
c.400T>C
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