Varaico: Literature-Extracted Genetic Variants

Gene:ALKBH2
Variant:p.E35fs

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.E35fs
c.103_104fs
Surrounding Variants
2 papers
NM_001145374.2
p.E35fs
c.103_104fs
1 paper
NM_001145374.2
p.S36G
c.106A>G
3 papers
NM_001145374.2
p.E35_S36delFs
c.104_107del4
1 paper
NM_001145374.2
p.G32V
c.95G>T
1 paper
NM_001145374.2
p.R40W
c.118A>T
1 paper
NM_001145374.2
p.E18V
c.53A>T
1 paper
NM_001145374.2
p.R15K
c.44G>A
1 paper
NM_001145374.2
p.P55L
c.164C>T
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
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