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.C202S

c.605G>C

Surrounding Variants

3 papers

NM_000475.5

p.C202delFs

c.604delA

1 paper

NM_000475.5

p.C202S

c.604T>A

2 papers

NM_000475.5

p.C202delFs

c.605delC

3 papers

NM_000475.5

p.C202fs

c.604_605fs

3 papers

NM_000475.5

p.G203S

c.607G>A

1 paper

NM_000475.5

p.E204*

c.610G>T

11 papers

NM_000475.5

p.C200W

c.600C>G

1 paper

NM_000475.5

p.Y197*

c.591C>A

1 paper

NM_000475.5

p.P207L

c.620C>T

2 papers

NM_000475.5

p.Q208*

c.622C>T

1 paper

NM_000475.5

p.Q208H

c.624G>T

1 paper

NM_000475.5

p.Q208H

c.624G>C