Varaico: Literature-Extracted Genetic Variants

Gene:AHR
Variant:p.Q705*

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.Q705*
c.2113C>T
Surrounding Variants
1 paper
NM_001621.5
p.P706L
c.2117C>T
1 paper
NM_001621.5
p.K713N
c.2139A>T
1 paper
NM_001621.5
p.M694V
c.2080A>G
1 paper
NM_001621.5
p.P720R
c.2159C>G
1 paper
NM_001621.5
p.M721T
c.2162T>C
1 paper
NM_001621.5
p.F724delFs
c.2172delT
1 paper
NM_001621.5
p.P686S
c.2056C>T
1 paper
NM_001621.5
p.F724fs
c.2170_2171fs
4 papers
NM_001621.5
p.S682G
c.2044A>G
1 paper
NM_001621.5
p.D677V
c.2030A>T
1 paper
NM_001621.5
p.S733F
c.2198C>T
1 paper
NM_001621.5
p.V674I
c.2020G>A
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