Varaico: Literature-Extracted Genetic Variants

Gene:ALKBH2
Variant:p.W134R

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.W134R
c.400T>A
Surrounding Variants
1 paper
NM_001145374.2
p.W134R
c.400T>C
1 paper
NM_001145374.2
p.W134C
c.402G>T
1 paper
NM_001145374.2
p.W134C
c.402G>C
1 paper
NM_001145374.2
p.V137I
c.409G>A
1 paper
NM_001145374.2
p.V137D
c.410T>A
1 paper
NM_001145374.2
p.L138I
c.412C>A
1 paper
NM_001145374.2
p.L138P
c.413T>C
1 paper
NM_001145374.2
p.R140C
c.418C>T
2 papers
NM_001145374.2
p.I141V
c.421A>G
1 paper
NM_001145374.2
p.S125L
c.374C>T
3 papers
NM_001145374.2
p.S125A
c.373T>G
1 paper
NM_001145374.2
p.H144Y
c.430C>T
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