Varaico: Literature-Extracted Genetic Variants

Gene:AHR
Variant:p.E279A

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
1 paper
NM_001621.5
p.E279A
c.836A>C
Surrounding Variants
1 paper
NM_001621.5
p.E279V
c.836A>T
1 paper
NM_001621.5
p.I280_R281insFs
c.840_841insA
2 papers
NM_001621.5
p.I277V
c.829A>G
1 paper
NM_001621.5
p.T282A
c.844A>G
2 papers
NM_001621.5
p.S276F
c.827C>T
1 paper
NM_001621.5
p.S276A
c.826T>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.P275A
c.823C>G
1 paper
NM_001621.5
p.N284H
c.850A>C
1 paper
NM_001621.5
p.I286T
c.857T>C
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