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

25 papers

NM_014249.4

p.R104Q

c.311G>A

Surrounding Variants

21 papers

NM_014249.4

p.R104W

c.310C>T

4 papers

NM_014249.4

p.C103*

c.309C>A

1 paper

NM_014249.4

p.K107del1

c.319_320delAAG

1 paper

NM_014249.4

p.K106_A111del6

c.316_332del18

1 paper

NM_014249.4

p.K106Q

c.316A>C

7 papers

NM_014249.4

p.A102D

c.305C>A

1 paper

NM_014249.4

p.C100*

c.300C>A

2 papers

NM_014249.4

p.Q110insFs

c.328dupC

1 paper

NM_014249.4

p.A111_D116ins2

c.332_346dup15

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