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

3 papers

NM_014249.4

p.I266N

c.797T>A

Surrounding Variants

3 papers

NM_014249.4

p.G264R

c.790G>A

3 papers

NM_014249.4

p.G264R

c.790G>C

2 papers

NM_014249.4

p.L270delFs

c.808_809delCT

1 paper

NM_014249.4

p.S269_L270delFs

c.805_809del5

9 papers

NM_014249.4

p.L263P

c.788T>C

1 paper

NM_014249.4

p.L263I

c.787C>A

2 papers

NM_014249.4

p.L270fs

c.808_809fs

1 paper

NM_014249.4

p.L270P

c.809T>C

1 paper

NM_014249.4

p.S258N

c.773G>A

1 paper

NM_014249.4

p.C275S

c.823T>A

1 paper

NM_014249.4

p.C275S

c.824G>C

5 papers

NM_014249.4

p.P276_P281delFs

c.827_843del17