Varaico: Literature-Extracted Genetic Variants

Gene:ALKBH1
Variant:p.C304S

ALKBH1

104 papers

RefSeq Summary

This gene encodes a homolog to the E. coli alkB gene product. The E. coli alkB protein is part of the adaptive response mechanism of DNA alkylation damage repair. It is involved in damage reversal by ...

Pfam Domains

2OG-FeII_Oxy_2aa 98–344UCSC2OG-Fe(II) oxygenase superfamily

Gene Aliases

HGNC Name

alkB homolog 1, histone H2A dioxygenase

HGNC Alias Symbols

hABH; alkB; ABH

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006020.3
p.C304S
c.910T>A
Surrounding Variants
1 paper
NM_006020.3
p.C304S
c.911G>C
1 paper
NM_006020.3
p.L301L
c.903G>C
1 paper
NM_006020.3
p.P310S
c.928C>T
1 paper
NM_006020.3
p.R291H
c.872G>A
1 paper
NM_006020.3
p.S317L
c.950C>T
1 paper
NM_006020.3
p.A288V
c.863C>T
1 paper
NM_006020.3
p.C322S
c.964T>A
1 paper
NM_006020.3
p.C322S
c.965G>C
3 papers
NM_006020.3
p.M324L
c.970A>T
3 papers
NM_006020.3
p.M324L
c.970A>C
1 paper
NM_006020.3
p.R283H
c.848G>A
1 paper
NM_006020.3
p.S279L
c.836C>T
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