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.C467S

c.1399T>A

Surrounding Variants

1 paper

NM_000475.5

p.C467S

c.1400G>C

14 papers

NM_000475.5

p.L466R

c.1397T>G

1 paper

NM_000475.5

p.L463R

c.1388T>G

2 papers

NM_000475.5

p.*471E

c.1411T>G

3 papers

NM_000475.5

p.*471Q

c.1411T>C

1 paper

NM_000475.5

p.*471K

c.1411T>A

1 paper

NM_000475.5

p.*471L

c.1412A>T

1 paper

NM_000475.5

p.M461_M462insFs

c.1383_1384insA

1 paper

NM_000475.5

p.M461R

c.1382T>G

1 paper

NM_000475.5

p.D459Fs

c.1376_1377delinsGFs

1 paper

NM_000475.5

p.D459G

c.1376A>G

1 paper

NM_000475.5

p.I452delFs

c.1355delA