Varaico: Literature-Extracted Genetic Variants

Gene:ALKBH3
Variant:p.A27Splc

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.A27Splc
c.79+5G>A
Surrounding Variants
1 paper
NM_139178.4
p.A27Splc
c.79+2C>A
1 paper
NM_139178.4
p.I23V
c.67A>G
1 paper
NM_139178.4
p.Q21E
c.61C>G
1 paper
NM_139178.4
p.S20fs
c.58_59fs
1 paper
NM_139178.4
p.S20_Q25delFs
c.58_73del16
1 paper
NM_139178.4
p.V18A
c.53T>C
1 paper
NM_139178.4
p.A15D
c.44C>A
2 papers
NM_139178.4
p.R7*
c.19C>T
1 paper
NM_139178.4
p.R6W
c.16C>T
1 paper
NM_139178.4
p.R5T
c.14G>C
1 paper
NM_139178.4
p.T29S
c.85A>T
1 paper
NM_139178.4
p.T29S
c.86C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."