Varaico: Literature-Extracted Genetic Variants

Gene:AHR
Variant:p.P271S

AHR

574 papers

RefSeq Summary

The protein encoded by this gene is a ligand-activated helix-loop-helix transcription factor involved in the regulation of biological responses to planar aromatic hydrocarbons. This receptor has been ...

Pfam Domains

HLHaa 35–80UCSCHelix-loop-helix DNA-binding domain
PASaa 113–227UCSCPAS fold
PAS_3aa 297–383UCSCPAS fold

Gene Aliases

HGNC Name

aryl hydrocarbon receptor

HGNC Alias Symbol

bHLHe76

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
6 papers
NM_001621.5
p.P271S
c.811C>T
Surrounding Variants
1 paper
NM_001621.5
p.A269V
c.806C>T
4 papers
NM_001621.5
p.I268I
c.804A>C
5 papers
NM_001621.5
p.A269_P275ins2
c.805_825dup21
1 paper
NM_001621.5
p.A267A
c.801G>A
1 paper
NM_001621.5
p.A267A
c.801G>C
1 paper
NM_001621.5
p.A267E
c.800C>A
1 paper
NM_001621.5
p.A267V
c.800C>T
1 paper
NM_001621.5
p.P275A
c.823C>G
1 paper
NM_001621.5
p.P275Q
c.824C>A
7 papers
NM_001621.5
p.P275_S276insFs
c.825_826insA
1 paper
NM_001621.5
p.P275L
c.824C>T
1 paper
NM_001621.5
p.S276A
c.826T>G
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