Varaico: Literature-Extracted Genetic Variants

Gene:AHR
Variant:p.T130I

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.T130I
c.389C>T
Surrounding Variants
1 paper
NM_001621.5
p.T130A
c.388A>G
1 paper
NM_001621.5
p.T131S
c.391A>T
3 papers
NM_001621.5
p.T131I
c.392C>T
1 paper
NM_001621.5
p.D132N
c.394G>A
1 paper
NM_001621.5
p.D132Y
c.394G>T
1 paper
NM_001621.5
p.L127*
c.380T>A
1 paper
NM_001621.5
p.L134S
c.401T>C
1 paper
NM_001621.5
p.F136S
c.407T>C
1 paper
NM_001621.5
p.S139A
c.415T>G
6 papers
NM_001621.5
p.Q120_A121Splc
c.361-1G>A
3 papers
NM_001621.5
p.Q120_A121Splc
c.361-2A>G
1 paper
NM_001621.5
p.S140C
c.419C>G
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