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.V277M

c.829G>A

Surrounding Variants

1 paper

NM_000475.5

p.Q276P

c.827A>C

1 paper

NM_000475.5

p.L278L

c.832C>T

1 paper

NM_000475.5

p.V277delFs

c.831delC

4 papers

NM_000475.5

p.L278R

c.833T>G

15 papers

NM_000475.5

p.L278P

c.833T>C

5 papers

NM_000475.5

p.P279L

c.836C>T

1 paper

NM_000475.5

p.L278_P279ins0

c.833_835dupTGC

3 papers

NM_000475.5

p.L280R

c.839T>G

3 papers

NM_000475.5

p.L280delFs

c.839delA

2 papers

NM_000475.5

p.D281N

c.841G>A

3 papers

NM_000475.5

p.Q282*

c.844C>T

8 papers

NM_000475.5

p.Y271*

c.813C>G