Varaico: Literature-Extracted Genetic Variants

NR1D1

76 papers

RefSeq Summary

This gene encodes a transcription factor that is a member of the nuclear receptor subfamily 1. The encoded protein is a ligand-sensitive transcription factor that negatively regulates the expression o...

Pfam Domains

zf-C4aa 130–200UCSCDouble treble clef zinc finger, C4 type

Hormone_recepaa 431–612UCSCLigand-binding domain of nuclear hormone receptor

Gene Aliases

HGNC Name

nuclear receptor subfamily 1 group D member 1

HGNC Previous Symbol

THRAL

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_021724.5

p.S20R

c.60T>G

Surrounding Variants

3 papers

NM_021724.5

p.S20R

c.60T>A

3 papers

NM_021724.5

p.S20R

c.58A>C

1 paper

NM_021724.5

p.I17T

c.50T>C

1 paper

NM_021724.5

p.T27I

c.80C>T

1 paper

NM_021724.5

p.G11Splc

c.32-2A>C

2 papers

NM_021724.5

p.G39D

c.116G>A

1 paper

NM_021724.5

p.Q46P

c.137A>C

1 paper

NM_021724.5

p.P53S

c.157C>T

1 paper

NM_021724.5

p.L60R

c.179T>G

1 paper

NM_021724.5

p.D63_P64insFs

c.189_190ins4

1 paper

NM_021724.5

p.L75fs

c.223_224fs

1 paper

NM_021724.5

p.P100P

c.300T>A