Varaico: Literature-Extracted Genetic Variants

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

1 paper

NM_005122.5

p.L290Q

c.869T>A

Surrounding Variants

2 papers

NM_005122.5

p.R301*

c.901C>T

1 paper

NM_005122.5

p.R301G

c.901C>G

1 paper

NM_005122.5

p.R301Q

c.902G>A

1 paper

NM_005122.5

p.D279N

c.835G>A

1 paper

NM_005122.5

p.Q277insFs

c.830_831insA

1 paper

NM_005122.5

p.V275V

c.825T>C

1 paper

NM_005122.5

p.R306Splc

c.917+17A>C

1 paper

NM_005122.5

p.S269F

c.806C>T

1 paper

NM_005122.5

p.S269Y

c.806C>A

1 paper

NM_005122.5

p.F268L

c.802T>C

1 paper

NM_005122.5

p.A266A

c.798C>T

1 paper

NM_005122.5

p.V260M

c.778G>A