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

6 papers

NM_000475.5

p.T265R

c.794C>G

Surrounding Variants

2 papers

NM_000475.5

p.T265insFs

c.794_795insGC

1 paper

NM_000475.5

p.L266insFs

c.796_797ins4

1 paper

NM_000475.5

p.L266R

c.797T>G

6 papers

NM_000475.5

p.L263*

c.788T>A

32 papers

NM_000475.5

p.R267P

c.800G>C

1 paper

NM_000475.5

p.L262delFs

c.785delA

6 papers

NM_000475.5

p.L262P

c.785T>C

9 papers

NM_000475.5

p.L262Q

c.785T>A

1 paper

NM_000475.5

p.K264_F268delFs

c.790_802del13

1 paper

NM_000475.5

p.V269F

c.805G>T

2 papers

NM_000475.5

p.V269L

c.805G>C

1 paper

NM_000475.5

p.V269I

c.805G>A