Varaico: Literature-Extracted Genetic Variants

Gene:AHR
Variant:p.V631I

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.V631I
c.1891G>A
Surrounding Variants
1 paper
NM_001621.5
p.V632del1
c.1894_1895delGTG
1 paper
NM_001621.5
p.V631_V632del1
c.1893_1895delAGT
1 paper
NM_001621.5
p.E633K
c.1897G>A
1 paper
NM_001621.5
p.Q624L
c.1871A>T
1 paper
NM_001621.5
p.L638V
c.1912C>G
1 paper
NM_001621.5
p.Q622K
c.1864C>A
5 papers
NM_001621.5
p.Q621*
c.1861C>T
1 paper
NM_001621.5
p.M642I
c.1926G>A
1 paper
NM_001621.5
p.L617V
c.1849C>G
1 paper
NM_001621.5
p.Q646P
c.1937A>C
1 paper
NM_001621.5
p.Q646H
c.1938A>C
1 paper
NM_001621.5
p.Q646H
c.1938A>T
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