Varaico: Literature-Extracted Genetic Variants

NR1D2

68 papers

RefSeq Summary

This gene encodes a member of the nuclear hormone receptor family, specifically the NR1 subfamily of receptors. The encoded protein functions as a transcriptional repressor and may play a role in circ...

Pfam Domains

zf-C4aa 101–171UCSCDouble treble clef zinc finger, C4 type

Hormone_recepaa 399–578UCSCLigand-binding domain of nuclear hormone receptor

Gene Aliases

HGNC Name

nuclear receptor subfamily 1 group D member 2

HGNC Alias Symbols

BD73; RVR; EAR-1r; HZF2; Hs.37288; REVERBB; REVERBbeta

Papers

RefSeq ID

Protein change

DNA change

1–12 of 64 variants

5 papers

NM_005126.5

p.C311S

c.931T>A

3 papers

NM_005126.5

p.M151L

c.451A>T

3 papers

NM_005126.5

p.A451T

c.1351G>A

2 papers

NM_005126.5

p.Q157H

c.471G>C

2 papers

NM_005126.5

p.Q157H

c.471G>T

2 papers

NM_005126.5

p.R175W

c.523C>T

2 papers

NM_005126.5

p.Q232H

c.696A>C

2 papers

NM_005126.5

p.Q232H

c.696A>T

2 papers

NM_005126.5

p.E400K

c.1198G>A

1 paper

NM_005126.5

p.M1K

c.2T>A

1 paper

NM_005126.5

p.A5A

c.15A>G

1 paper

NM_005126.5

p.G6Splc

c.16+225G>A