Varaico: Literature-Extracted Genetic Variants

Gene:ALKBH2
Variant:p.R248W

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
1 paper
NM_001145374.2
p.R248W
c.742C>T
Surrounding Variants
1 paper
NM_001145374.2
p.R248Q
c.743G>A
1 paper
NM_001145374.2
p.L251P
c.752T>C
1 paper
NM_001145374.2
p.T252I
c.755C>T
2 papers
NM_001145374.2
p.R254C
c.760C>T
3 papers
NM_001145374.2
p.R254H
c.761G>A
1 paper
NM_001145374.2
p.K255E
c.763A>G
1 paper
NM_001145374.2
p.P239S
c.715C>T
1 paper
NM_001145374.2
p.S237C
c.709A>T
1 paper
NM_001145374.2
p.N231D
c.691A>G
1 paper
NM_001145374.2
p.T230I
c.689C>T
1 paper
NM_001145374.2
p.P229A
c.685C>G
1 paper
NM_001145374.2
p.M226T
c.677T>C
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