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

117 papers

NM_014249.4

p.R311Q

c.932G>A

Surrounding Variants

1 paper

NM_014249.4

p.R311G

c.931C>G

3 papers

NM_014249.4

p.R311W

c.931C>T

1 paper

NM_014249.4

p.F310L

c.930C>A

1 paper

NM_014249.4

p.F310L

c.930C>G

1 paper

NM_014249.4

p.A312T

c.934G>A

1 paper

NM_014249.4

p.F310L

c.928T>C

5 papers

NM_014249.4

p.R309Q

c.926G>A

6 papers

NM_014249.4

p.R309L

c.926G>T

14 papers

NM_014249.4

p.R309G

c.925C>G

1 paper

NM_014249.4

p.R309W

c.925C>T

1 paper

NM_014249.4

p.S308insFs

c.923_924ins4

1 paper

NM_014249.4

p.V315M

c.943G>A