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

2 papers

NM_000475.5

p.E137*

c.409G>T

Surrounding Variants

1 paper

NM_000475.5

p.G136insFs

c.407dupG

1 paper

NM_000475.5

p.C135delFs

c.405delA

1 paper

NM_000475.5

p.F134_C135del2

c.400_404del6

1 paper

NM_000475.5

p.C135F

c.404G>T

1 paper

NM_000475.5

p.D138E

c.414C>A

1 paper

NM_000475.5

p.F134L

c.402T>G

1 paper

NM_000475.5

p.F134L

c.402T>A

1 paper

NM_000475.5

p.F134S

c.401T>C

2 papers

NM_000475.5

p.H139insFs

c.416_417insA

1 paper

NM_000475.5

p.F134L

c.400T>C

1 paper

NM_000475.5

p.P140_R141del1

c.419_421delGCG

1 paper

NM_000475.5

p.R141insFs

c.421_422dupCG