Varaico: Literature-Extracted Genetic Variants

Gene:AHR
Variant:p.Q516insFs

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.Q516insFs
c.1547_1548insC
Surrounding Variants
1 paper
NM_001621.5
p.Q516H
c.1548G>C
1 paper
NM_001621.5
p.Q516H
c.1548G>T
9 papers
NM_001621.5
p.P517S
c.1549C>T
2 papers
NM_001621.5
p.Q516insFs
c.1546_1547insC
2 papers
NM_001621.5
p.I514T
c.1541T>C
1 paper
NM_001621.5
p.S522P
c.1564T>C
1 paper
NM_001621.5
p.T507I
c.1520C>T
1 paper
NM_001621.5
p.G526D
c.1577G>A
1 paper
NM_001621.5
p.D506Y
c.1516G>T
1 paper
NM_001621.5
p.N505S
c.1514A>G
1 paper
NM_001621.5
p.P502L
c.1505C>T
1 paper
NM_001621.5
p.S534_Y540delFs
c.1602_1618del17
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