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

7 papers

NM_000475.5

p.S259P

c.775T>C

Surrounding Variants

1 paper

NM_000475.5

p.A258_S259insFs

c.774_775insCC

1 paper

NM_000475.5

p.S259*

c.776C>G

1 paper

NM_000475.5

p.S259*

c.776C>A

5 papers

NM_000475.5

p.A258D

c.773C>A

2 papers

NM_000475.5

p.A260V

c.779C>T

1 paper

NM_000475.5

p.E256E

c.768G>A

1 paper

NM_000475.5

p.E256*

c.766G>T

1 paper

NM_000475.5

p.E256Q

c.766G>C

6 papers

NM_000475.5

p.L262P

c.785T>C

9 papers

NM_000475.5

p.L262Q

c.785T>A

2 papers

NM_000475.5

p.C255*

c.765C>A

1 paper

NM_000475.5

p.L262delFs

c.785delA