Varaico: Literature-Extracted Genetic Variants

Gene:ALKBH3
Variant:p.V63L

ALKBH3

69 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 (MIM 610602) and ALKBH3 are E. ...

Pfam Domains

2OG-FeII_Oxy_2aa 89–275UCSC2OG-Fe(II) oxygenase superfamily

Gene Aliases

HGNC Name

alkB homolog 3, alpha-ketoglutarate dependent dioxygenase

HGNC Alias Symbol

DEPC-1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_139178.4
p.V63L
c.187G>C
Surrounding Variants
1 paper
NM_139178.4
p.V63L
c.187G>T
2 papers
NM_139178.4
p.R64H
c.191G>A
1 paper
NM_139178.4
p.Q61_V62Splc
c.184-3C>G
6 papers
NM_139178.4
p.R70*
c.208C>T
1 paper
NM_139178.4
p.V71L
c.211G>C
1 paper
NM_139178.4
p.V71L
c.211G>T
1 paper
NM_139178.4
p.I72T
c.215T>C
1 paper
NM_139178.4
p.Q61delFs
c.182delA
2 papers
NM_139178.4
p.E46Q
c.136G>C
1 paper
NM_139178.4
p.T41I
c.122C>T
1 paper
NM_139178.4
p.Q40*
c.118C>T
2 papers
NM_139178.4
p.G39C
c.115G>T
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