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.E501Q

c.1501G>C

Surrounding Variants

1 paper

NM_005126.5

p.L505L

c.1513T>C

1 paper

NM_005126.5

p.F487C

c.1460T>G

1 paper

NM_005126.5

p.K457R

c.1370A>G

3 papers

NM_005126.5

p.A451T

c.1351G>A

1 paper

NM_005126.5

p.V435F

c.1303G>T

1 paper

NM_005126.5

p.Q431H

c.1293G>C

1 paper

NM_005126.5

p.Q431H

c.1293G>T

1 paper

NM_005126.5

p.S408N

c.1223G>A

1 paper

NM_005126.5

p.M407I

c.1221G>A

1 paper

NM_005126.5

p.M407I

c.1221G>C

1 paper

NM_005126.5

p.M407I

c.1221G>T

2 papers

NM_005126.5

p.E400K

c.1198G>A