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.M1K

c.2T>A

Surrounding Variants

1 paper

NM_005126.5

p.A5A

c.15A>G

1 paper

NM_005126.5

p.G6Splc

c.16+225G>A

1 paper

NM_005126.5

p.G6Splc

c.17-15C>G

1 paper

NM_005126.5

p.S13T

c.38G>C

1 paper

NM_005126.5

p.S20R

c.58A>C

1 paper

NM_005126.5

p.S20R

c.60C>A

1 paper

NM_005126.5

p.S20R

c.60C>G

1 paper

NM_005126.5

p.E30*

c.88G>T

1 paper

NM_005126.5

p.S35F

c.104C>T

1 paper

NM_005126.5

p.E64K

c.190G>A

1 paper

NM_005126.5

p.R71*

c.211C>T

1 paper

NM_005126.5

p.T78T

c.234A>T