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.G288G

c.864T>A

Surrounding Variants

3 papers

NM_014249.4

p.G287S

c.859G>A

1 paper

NM_014249.4

p.R292W

c.874C>T

1 paper

NM_014249.4

p.T294T

c.882G>A

1 paper

NM_014249.4

p.E282K

c.844G>A

1 paper

NM_014249.4

p.M298I

c.894G>A

1 paper

NM_014249.4

p.M298I

c.894G>C

1 paper

NM_014249.4

p.M298I

c.894G>T

1 paper

NM_014249.4

p.P276fs

c.826_827fs

2 papers

NM_014249.4

p.P276fs

c.826_827fs

5 papers

NM_014249.4

p.P276_P281delFs

c.827_843del17

5 papers

NM_014249.4

p.V302I

c.904G>A

1 paper

NM_014249.4

p.C275S

c.824G>C