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

1 paper

NM_005126.5

p.I148V

c.442A>G

Surrounding Variants

1 paper

NM_001145425.2

p.I73L

c.217A>C

1 paper

NM_005126.5

p.I148K

c.443T>A

3 papers

NM_005126.5

p.M151L

c.451A>T

1 paper

NM_005126.5

p.R155G

c.463A>G

1 paper

NM_005126.5

p.R155K

c.464G>A

2 papers

NM_005126.5

p.Q157H

c.471G>C

2 papers

NM_005126.5

p.Q157H

c.471G>T

1 paper

NM_005126.5

p.K162R

c.485A>G

1 paper

NM_005126.5

p.S130I

c.389G>T

2 papers

NM_005126.5

p.R175W

c.523C>T

1 paper

NM_001145425.2

p.K109I

c.326A>T

1 paper

NM_005126.5

p.E214K

c.640G>A