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

96 papers

NM_014249.4

p.G40Splc

c.119-2A>C

Surrounding Variants

1 paper

NM_014249.4

p.G40Splc

c.119-2A>G

6 papers

NM_014249.4

p.G40Splc

c.119-3C>G

2 papers

NM_014249.4

p.G40Splc

c.119-1G>A

1 paper

NM_014249.4

p.S42_C47delFs

c.124_140del17

2 papers

NM_014249.4

p.V41M

c.121G>A

1 paper

NM_014249.4

p.V41fs

c.121_122fs

6 papers

NM_014249.4

p.S44*

c.131C>A

3 papers

NM_014249.4

p.S44L

c.131C>T

2 papers

NM_014249.4

p.Q46*

c.136C>T

1 paper

NM_014249.4

p.C47S

c.139T>A

1 paper

NM_014249.4

p.C47S

c.140G>C

4 papers

NM_014249.4

p.R48C

c.142C>T