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

4 papers

NM_014249.4

p.A117Splc

c.349+5G>C

Surrounding Variants

1 paper

NM_014249.4

p.A117Splc

c.349+8G>A

1 paper

NM_014249.4

p.A117Splc

c.349+2T>G

1 paper

NM_014249.4

p.A117Splc

c.349+1G>T

3 papers

NM_014249.4

p.A117T

c.349G>A

1 paper

NM_014249.4

p.N114K

c.342C>A

1 paper

NM_014249.4

p.N114K

c.342C>G

1 paper

NM_014249.4

p.A111A

c.333G>T

1 paper

NM_014249.4

p.A111V

c.332C>T

1 paper

NM_014249.4

p.Q110fs

c.328_329fs

4 papers

NM_014249.4

p.Q110*

c.328C>T

1 paper

NM_014249.4

p.Q110fs

c.328_329fs

2 papers

NM_014249.4

p.Q110insFs

c.328dupC