Varaico: Literature-Extracted Genetic Variants

Gene:ALKBH2
Variant:p.F197L

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.F197L
c.589T>C
Surrounding Variants
1 paper
NM_001145374.2
p.R198W
c.592C>T
1 paper
NM_001145374.2
p.F195S
c.584T>C
2 papers
NM_001145374.2
p.D194Y
c.580G>T
1 paper
NM_001145374.2
p.R193S
c.579A>T
1 paper
NM_001145374.2
p.R193S
c.579A>C
1 paper
NM_001145374.2
p.R193T
c.578G>C
1 paper
NM_001145374.2
p.R193K
c.578G>A
1 paper
NM_001145374.2
p.D201G
c.602A>G
1 paper
NM_001145374.2
p.C192S
c.575G>C
1 paper
NM_001145374.2
p.C192S
c.574T>A
3 papers
NM_001145374.2
p.R203H
c.608G>A
1 paper
NM_001145374.2
p.G190D
c.569G>A
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