Varaico: Literature-Extracted Genetic Variants

Gene:ALKBH3
Variant:p.C178Y

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.C178Y
c.533G>A
Surrounding Variants
1 paper
NM_139178.4
p.L177I
c.529C>A
1 paper
NM_139178.4
p.S175C
c.524C>G
1 paper
NM_139178.4
p.E184D
c.552G>C
1 paper
NM_139178.4
p.E184D
c.552G>T
1 paper
NM_139178.4
p.G170C
c.508G>T
1 paper
NM_139178.4
p.V188M
c.562G>A
4 papers
NM_139178.4
p.D189N
c.565G>A
3 papers
NM_139178.4
p.D189A
c.566A>C
1 paper
NM_139178.4
p.I165T
c.494T>C
2 papers
NM_139178.4
p.R164H
c.491G>A
1 paper
NM_139178.4
p.D194del1
c.580_581delGAT
11 papers
NM_139178.4
p.R164C
c.490C>T
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