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

3 papers

NM_005122.5

p.N323S

c.968A>G

Surrounding Variants

1 paper

NM_005122.5

p.R320Q

c.959G>A

1 paper

NM_005122.5

p.G327G

c.981G>A

1 paper

NM_005122.5

p.A310A

c.930G>A

2 papers

NM_005122.5

p.L308P

c.923T>C

1 paper

NM_005122.5

p.L343V

c.1027C>G

1 paper

NM_005122.5

p.E345A

c.1034A>C

1 paper

NM_005122.5

p.R306Splc

c.917+17A>C

1 paper

NM_005122.5

p.R301Q

c.902G>A

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.L290Q

c.869T>A

1 paper

NM_005122.5

p.D279N

c.835G>A