Varaico: Literature-Extracted Genetic Variants

Gene:ALKBH2
Variant:p.E18V

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.E18V
c.53A>T
Surrounding Variants
1 paper
NM_001145374.2
p.R15K
c.44G>A
1 paper
NM_001145374.2
p.G12V
c.35G>T
1 paper
NM_001145374.2
p.G12A
c.35G>C
1 paper
NM_001145374.2
p.G12C
c.34G>T
1 paper
NM_001145374.2
p.G12S
c.34G>A
2 papers
NM_001145374.2
p.Q10K
c.28C>A
2 papers
NM_001145374.2
p.A9V
c.26C>T
1 paper
NM_001145374.2
p.G32V
c.95G>T
1 paper
NM_001145374.2
p.R3T
c.8G>C
3 papers
NM_001145374.2
p.E35fs
c.103_104fs
2 papers
NM_001145374.2
p.E35fs
c.103_104fs
1 paper
NM_001145374.2
p.S36G
c.106A>G
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