Varaico: Literature-Extracted Genetic Variants

Gene:AHR
Variant:p.Y470C

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.Y470C
c.1409A>G
Surrounding Variants
1 paper
NM_001621.5
p.P471A
c.1411C>G
1 paper
NM_001621.5
p.P471S
c.1411C>T
1 paper
NM_001621.5
p.A472A
c.1416T>A
1 paper
NM_001621.5
p.S473L
c.1418C>T
1 paper
NM_001621.5
p.S474G
c.1420A>G
1 paper
NM_001621.5
p.E465delFs
c.1394delA
1 paper
NM_001621.5
p.S476L
c.1427C>T
1 paper
NM_001621.5
p.A459V
c.1376C>T
1 paper
NM_001621.5
p.N483S
c.1448A>G
1 paper
NM_001621.5
p.L457M
c.1369C>A
1 paper
NM_001621.5
p.F485L
c.1453T>C
1 paper
NM_001621.5
p.F485V
c.1453T>G
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