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.Y130*

c.390C>G

Surrounding Variants

1 paper

NM_000475.5

p.Y130*

c.390C>A

1 paper

NM_000475.5

p.R131L

c.392G>T

2 papers

NM_000475.5

p.R131H

c.392G>A

1 paper

NM_000475.5

p.Y130fs

c.388_389fs

1 paper

NM_000475.5

p.L129delFs

c.385delG

1 paper

NM_000475.5

p.L129fs

c.385_386fs

1 paper

NM_000475.5

p.L128_L129insFs

c.384_385insA

1 paper

NM_000475.5

p.L128P

c.383T>C

1 paper

NM_000475.5

p.F134L

c.400T>C

1 paper

NM_000475.5

p.F134S

c.401T>C

1 paper

NM_000475.5

p.A127P

c.379G>C

1 paper

NM_000475.5

p.A127T

c.379G>A