Varaico: Literature-Extracted Genetic Variants

NR0B1

471 papers

RefSeq Summary

This gene encodes a protein that contains a DNA-binding domain. The encoded protein acts as a dominant-negative regulator of transcription which is mediated by the retinoic acid receptor. This protein...

Pfam Domains

NR_Repeataa 1–49UCSCNuclear receptor repeat

NR_Repeataa 68–115UCSCNuclear receptor repeat

NR_Repeataa 134–182UCSCNuclear receptor repeat

NR_Repeataa 201–246UCSCNuclear receptor repeat

Hormone_recepaa 249–453UCSCLigand-binding domain of nuclear hormone receptor

Gene Aliases

HGNC Name

nuclear receptor subfamily 0 group B member 1

HGNC Previous Symbols

AHC; DSS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000475.5

p.Q252R

c.755A>G

Surrounding Variants

2 papers

NM_000475.5

p.Q252delFs

c.754delG

4 papers

NM_000475.5

p.Q252*

c.754C>T

1 paper

NM_000475.5

p.P251L

c.752C>T

1 paper

NM_000475.5

p.V253_V254del2

c.757_761del6

1 paper

NM_000475.5

p.K249delFs

c.745_746delTT

2 papers

NM_000475.5

p.C255*

c.765C>A

1 paper

NM_000475.5

p.E256*

c.766G>T

1 paper

NM_000475.5

p.E256Q

c.766G>C

1 paper

NM_000475.5

p.E256E

c.768G>A

1 paper

NM_000475.5

p.P245_A247delFs

c.734_740del7

1 paper

NM_000475.5

p.V246insFs

c.736dupG

5 papers

NM_000475.5

p.A258D

c.773C>A