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

21 papers

NM_000475.5

p.Y380D

c.1138T>G

Surrounding Variants

1 paper

NM_000475.5

p.Y380fs

c.1138_1139fs

6 papers

NM_000475.5

p.L381V

c.1141C>G

1 paper

NM_000475.5

p.L381P

c.1142T>C

11 papers

NM_000475.5

p.L381H

c.1142T>A

1 paper

NM_000475.5

p.Y378*

c.1134C>G

1 paper

NM_000475.5

p.Y378*

c.1134C>A

3 papers

NM_000475.5

p.Y378C

c.1133A>G

2 papers

NM_000475.5

p.Y378delFs

c.1132delA

1 paper

NM_000475.5

p.K382E

c.1144A>G

2 papers

NM_000475.5

p.E377delFs

c.1130delT

11 papers

NM_000475.5

p.K382N

c.1146G>T

11 papers

NM_000475.5

p.K382N

c.1146G>C