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.C368*

c.1104C>A

Surrounding Variants

5 papers

NM_000475.5

p.C368W

c.1104C>G

4 papers

NM_000475.5

p.C368F

c.1103G>T

4 papers

NM_000475.5

p.W369*

c.1106G>A

4 papers

NM_000475.5

p.W369*

c.1107G>A

1 paper

NM_000475.5

p.S370G

c.1108A>G

1 paper

NM_000475.5

p.S370N

c.1109G>A

1 paper

NM_000475.5

p.S366S

c.1098C>T

1 paper

NM_000475.5

p.S366A

c.1096T>G

5 papers

NM_000475.5

p.L371P

c.1112T>C

2 papers

NM_000475.5

p.L365P

c.1094T>C

1 paper

NM_000475.5

p.F364delFs

c.1092delA

1 paper

NM_000475.5

p.F364L

c.1092T>G