Varaico: Literature-Extracted Genetic Variants

Gene:AHR
Variant:p.R554K

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
119 papers
NM_001621.5
p.R554K
c.1661G>A
Surrounding Variants
1 paper
NM_001621.5
p.F550S
c.1649T>C
1 paper
NM_001621.5
p.K560delFs
c.1680delA
1 paper
NM_001621.5
p.K560_F561delFs
c.1680_1681delAT
1 paper
NM_001621.5
p.F562L
c.1684T>C
2 papers
NM_001621.5
p.F562S
c.1685T>C
21 papers
NM_001621.5
p.V570I
c.1708G>A
2 papers
NM_001621.5
p.D538G
c.1613A>G
1 paper
NM_001621.5
p.N536S
c.1607A>G
1 paper
NM_001621.5
p.K535E
c.1603A>G
1 paper
NM_001621.5
p.S534_Y540delFs
c.1602_1618del17
1 paper
NM_001621.5
p.D574D
c.1722C>T
1 paper
NM_001621.5
p.G526D
c.1577G>A
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