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.T38A

c.112A>G

Surrounding Variants

1 paper

NM_005122.5

p.R37_T38del1

c.110_112delTTC

1 paper

NM_005122.5

p.R37K

c.110G>A

1 paper

NM_005122.5

p.R37_T38del2

c.109_113del6

5 papers

NM_005122.5

p.T46A

c.136A>G

1 paper

NM_005122.5

p.P48T

c.142C>A

1 paper

NM_005122.5

p.P48H

c.143C>A

1 paper

NM_005122.5

p.F49fs

c.145_146fs

1 paper

NM_005122.5

p.G51R

c.151G>A

1 paper

NM_005122.5

p.S52N

c.155G>A

1 paper

NM_005122.5

p.T58N

c.173C>A

1 paper

NM_005122.5

p.C63Y

c.188G>A

1 paper

NM_005122.5

p.C66R

c.196T>C