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

1 paper

NM_014249.4

p.C64F

c.191G>T

Surrounding Variants

1 paper

NM_014249.4

p.G66del1

c.196_197delGGC

2 papers

NM_014249.4

p.G66_C67del0

c.196_201del6

1 paper

NM_014249.4

p.C67_F70del0

c.200_208del9

3 papers

NM_014249.4

p.A63D

c.188C>A

10 papers

NM_014249.4

p.N65_S68del0

c.194_202del9

1 paper

NM_014249.4

p.N65K

c.195C>A

1 paper

NM_014249.4

p.N65K

c.195C>G

2 papers

NM_014249.4

p.N65N

c.195C>T

1 paper

NM_014249.4

p.A63T

c.187G>A

1 paper

NM_014249.4

p.G66C

c.196G>T

4 papers

NM_014249.4

p.C67del1

c.199_200delTGC

3 papers

NM_014249.4

p.S68G

c.202A>G