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.R610W

c.1828C>T

Surrounding Variants

2 papers

NM_021724.5

p.K605N

c.1815G>T

1 paper

NM_021724.5

p.K605N

c.1815G>C

1 paper

NM_021724.5

p.E604Q

c.1810G>C

3 papers

NM_021724.5

p.L580S

c.1739T>C

1 paper

NM_021724.5

p.S558L

c.1673C>T

1 paper

NM_021724.5

p.D549Splc

c.1646-1G>A

1 paper

NM_021724.5

p.D549Splc

c.1646-2A>G

1 paper

NM_021724.5

p.K526Q

c.1576A>C

1 paper

NM_021724.5

p.R500H

c.1499G>A

1 paper

NM_021724.5

p.Q493*

c.1477C>T

1 paper

NM_021724.5

p.V469A

c.1406T>C

1 paper

NM_021724.5

p.V451A

c.1352T>C