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.D390Splc

c.1168+1G>C

Surrounding Variants

1 paper

NM_000475.5

p.D390Splc

c.1168+1G>T

1 paper

NM_000475.5

p.D390Splc

c.1168+1G>A

1 paper

NM_000475.5

p.D390Splc

c.1168+2T>G

1 paper

NM_000475.5

p.F387delFs

c.1161delA

4 papers

NM_000475.5

p.L386delFs

c.1156_1157delAG

1 paper

NM_000475.5

p.L386R

c.1157T>G

2 papers

NM_000475.5

p.L386P

c.1157T>C

2 papers

NM_000475.5

p.L386F

c.1156C>T

10 papers

NM_000475.5

p.V385G

c.1154T>G

1 paper

NM_000475.5

p.V385L

c.1153G>T

1 paper

NM_000475.5

p.V385L

c.1153G>C

1 paper

NM_000475.5

p.G383delFs

c.1148_1149delCC