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.L101L

c.301C>T

Surrounding Variants

1 paper

NM_000475.5

p.T100R

c.299C>G

1 paper

NM_000475.5

p.T100delFs

c.298delT

1 paper

NM_000475.5

p.T100fs

c.298_299fs

1 paper

NM_000475.5

p.A99delFs

c.297delC

4 papers

NM_000475.5

p.G102delFs

c.305delC

2 papers

NM_000475.5

p.P97delFs

c.291delG

1 paper

NM_000475.5

p.E98fs

c.292_293fs

2 papers

NM_000475.5

p.C104W

c.312C>G

1 paper

NM_000475.5

p.C104*

c.312C>A

2 papers

NM_000475.5

p.C104delFs

c.311_312delGC

1 paper

NM_000475.5

p.E98_C104del7

c.292_311del21

5 papers

NM_000475.5

p.W105*

c.314G>A