Varaico: Literature-Extracted Genetic Variants

Gene:NR1I3
Variant:p.H246R

NR1I3

256 papers

RefSeq Summary

This gene encodes a member of the nuclear receptor superfamily, and is a key regulator of xenobiotic and endobiotic metabolism. The protein binds to DNA as a monomer or a heterodimer with the retinoid...

Pfam Domains

zf-C4aa 9–78UCSCDouble treble clef zinc finger, C4 type
Hormone_recepaa 157–338UCSCLigand-binding domain of nuclear hormone receptor

Gene Aliases

HGNC Name

nuclear receptor subfamily 1 group I member 3

HGNC Alias Symbols

MB67; CAR1; CAR

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_005122.5
p.H246R
c.737A>G
Surrounding Variants
1 paper
NM_005122.5
p.H246H
c.738T>C
1 paper
NM_005122.5
p.H244H
c.732C>T
1 paper
NM_005122.5
p.H244D
c.730C>G
1 paper
NM_005122.5
p.F243L
c.729T>G
1 paper
NM_005122.5
p.F243L
c.729T>A
1 paper
NM_001077482.3
p.F247S
c.740T>C
1 paper
NM_005122.5
p.F243L
c.727T>C
1 paper
NM_001077473.3
p.R225*
c.673C>T
1 paper
NM_005122.5
p.L242I
c.724C>A
1 paper
NM_005122.5
p.E240G
c.719A>G
2 papers
NM_005122.5
p.L254F
c.760C>T
1 paper
NM_005122.5
p.L254V
c.760C>G
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