Varaico: Literature-Extracted Genetic Variants

Gene:AHR
Variant:p.E488K

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
2 papers
NM_001621.5
p.E488K
c.1462G>A
Surrounding Variants
1 paper
NM_001621.5
p.E488Q
c.1462G>C
1 paper
NM_001621.5
p.N487S
c.1460A>G
5 papers
NM_001621.5
p.N487D
c.1459A>G
1 paper
NM_001621.5
p.F486F
c.1458C>T
4 papers
NM_001621.5
p.M490V
c.1468A>G
1 paper
NM_001621.5
p.F485L
c.1455T>A
1 paper
NM_001621.5
p.F485L
c.1455T>G
1 paper
NM_001621.5
p.N491_N495delFs
c.1473_1483del11
1 paper
NM_001621.5
p.F485L
c.1453T>C
1 paper
NM_001621.5
p.F485V
c.1453T>G
1 paper
NM_001621.5
p.E492Q
c.1474G>C
1 paper
NM_001621.5
p.N483S
c.1448A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."