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

2 papers

NM_021724.5

p.A374G

c.1121C>G

Surrounding Variants

1 paper

NM_021724.5

p.H376_S377insFs

c.1128_1129insA

1 paper

NM_021724.5

p.Q380K

c.1138C>A

1 paper

NM_021724.5

p.T368I

c.1103C>T

1 paper

NM_021724.5

p.P367T

c.1099C>A

1 paper

NM_021724.5

p.Y365*

c.1095C>G

1 paper

NM_021724.5

p.H392Q

c.1176C>A

1 paper

NM_021724.5

p.V393M

c.1177G>A

1 paper

NM_021724.5

p.A395S

c.1183G>T

1 paper

NM_021724.5

p.H351Q

c.1053T>G

1 paper

NM_021724.5

p.H351Q

c.1053T>A

1 paper

NM_021724.5

p.P397insFs

c.1190_1191insT

1 paper

NM_021724.5

p.R350H

c.1049G>A