Varaico: Literature-Extracted Genetic Variants

NR2E3

434 papers

RefSeq Summary

This protein is part of a large family of nuclear receptor transcription factors involved in signaling pathways. Nuclear receptors have been shown to regulate pathways involved in embryonic developmen...

Pfam Domains

zf-C4aa 45–115UCSCDouble treble clef zinc finger, C4 type

Hormone_recepaa 205–395UCSCLigand-binding domain of nuclear hormone receptor

Gene Aliases

HGNC Name

nuclear receptor subfamily 2 group E member 3

HGNC Alias Symbols

PNR; rd7; RP37

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_014249.4

p.M323insFs

c.967dupA

Surrounding Variants

3 papers

NM_014249.4

p.M323fs

c.967_968fs

1 paper

NM_014249.4

p.M323T

c.968T>C

3 papers

NM_014249.4

p.K324R

c.971A>G

1 paper

NM_014249.4

p.F320_A321delFs

c.960_963del4

1 paper

NM_014249.4

p.E319_A321del3

c.955_962del9

2 papers

NM_014249.4

p.T318fs

c.952_953fs

3 papers

NM_014249.4

p.T318fs

c.952_953fs

1 paper

NM_014249.4

p.D316G

c.947A>G

8 papers

NM_014249.4

p.P317delFs

c.951delC

3 papers

NM_014249.4

p.D316fs

c.946_947fs

1 paper

NM_014249.4

p.V315M

c.943G>A

2 papers

NM_014249.4

p.E332K

c.994G>A