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

21 papers

NM_014249.4

p.A256E

c.767C>A

Surrounding Variants

7 papers

NM_014249.4

p.A256V

c.767C>T

1 paper

NM_014249.4

p.A256A

c.768G>T

1 paper

NM_014249.4

p.E255del1

c.763_765delGAG

1 paper

NM_014249.4

p.S258N

c.773G>A

1 paper

NM_014249.4

p.E254*

c.760G>T

3 papers

NM_014249.4

p.L252P

c.755T>C

1 paper

NM_014249.4

p.L263I

c.787C>A

9 papers

NM_014249.4

p.L263P

c.788T>C

1 paper

NM_014249.4

p.Q249_V250Splc

c.748-3C>T

3 papers

NM_014249.4

p.G264R

c.790G>A

3 papers

NM_014249.4

p.G264R

c.790G>C

3 papers

NM_014249.4

p.I266N

c.797T>A