Varaico: Literature-Extracted Genetic Variants

Gene:AHR
Variant:p.P421L

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.P421L
c.1262C>T
Surrounding Variants
1 paper
NM_001621.5
p.I423V
c.1267A>G
2 papers
NM_001621.5
p.P426S
c.1276C>T
1 paper
NM_001621.5
p.P426H
c.1277C>A
1 paper
NM_001621.5
p.A416_N418del0
c.1246_1254del9
1 paper
NM_001621.5
p.R430R
c.1290G>A
1 paper
NM_001621.5
p.N433T
c.1298A>C
1 paper
NM_001621.5
p.T435S
c.1303A>T
1 paper
NM_001621.5
p.T435S
c.1304C>G
1 paper
NM_001621.5
p.T407_T408insFs
c.1221_1222insC
1 paper
NM_001621.5
p.G437A
c.1310G>C
1 paper
NM_001621.5
p.S440Y
c.1319C>A
3 papers
NM_001621.5
p.K401R
c.1202A>G
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