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.R204C

c.610C>T

Surrounding Variants

1 paper

NM_021724.5

p.A202Splc

c.605-2A>G

2 papers

NM_021724.5

p.R207H

c.620G>A

1 paper

NM_021724.5

p.P236T

c.706C>A

1 paper

NM_021724.5

p.M250fs

c.748_749fs

1 paper

NM_021724.5

p.P249delFs

c.747delG

1 paper

NM_021724.5

p.P255S

c.763C>T

1 paper

NM_021724.5

p.V259A

c.776T>C

1 paper

NM_021724.5

p.L263P

c.788T>C

1 paper

NM_021724.5

p.D201D

c.603C>T

1 paper

NM_021724.5

p.G335D

c.1004G>A

1 paper

NM_021724.5

p.R189H

c.566G>A

1 paper

NM_021724.5

p.P338S

c.1012C>T