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

Selected Variant

2 papers

NM_005126.5

p.Q232H

c.696A>T

Surrounding Variants

2 papers

NM_005126.5

p.Q232H

c.696A>C

1 paper

NM_005126.5

p.Q218K

c.652C>A

1 paper

NM_005126.5

p.E214K

c.640G>A

1 paper

NM_005126.5

p.E270K

c.808G>A

1 paper

NM_005126.5

p.Q280*

c.838C>T

1 paper

NM_001145425.2

p.K109I

c.326A>T

1 paper

NM_005126.5

p.E285K

c.853G>A

1 paper

NM_001145425.2

p.R211W

c.631C>T

2 papers

NM_005126.5

p.R175W

c.523C>T

1 paper

NM_005126.5

p.N303S

c.908A>G

5 papers

NM_005126.5

p.C311S

c.931T>A

1 paper

NM_005126.5

p.N332S

c.995A>G