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

1–12 of 69 variants

3 papers

NM_021724.5

p.S20R

c.58A>C

3 papers

NM_021724.5

p.S20R

c.60T>G

3 papers

NM_021724.5

p.S20R

c.60T>A

3 papers

NM_021724.5

p.R204C

c.610C>T

3 papers

NM_021724.5

p.L580S

c.1739T>C

2 papers

NM_021724.5

p.G39D

c.116G>A

2 papers

NM_021724.5

p.R207H

c.620G>A

2 papers

NM_021724.5

p.A374G

c.1121C>G

2 papers

NM_021724.5

p.L416_A417Splc

c.1248+40G>T

2 papers

NM_021724.5

p.K605N

c.1815G>T

2 papers

NM_021724.5

p.R610W

c.1828C>T

1 paper

NM_021724.5

p.M1T

c.2T>C