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

1 paper

NM_014249.4

p.A151_P162del12

c.451_485del36

Surrounding Variants

2 papers

NM_014249.4

p.P150L

c.449C>T

1 paper

NM_014249.4

p.P152S

c.454C>T

1 paper

NM_014249.4

p.P152Q

c.455C>A

1 paper

NM_014249.4

p.A153_G159insFs

c.459_477dup19

1 paper

NM_014249.4

p.P149_A151delFs

c.445_451del7

1 paper

NM_014249.4

p.P149_A151del3

c.445_452del9

1 paper

NM_014249.4

p.G154E

c.461G>A

1 paper

NM_014249.4

p.E144*

c.430G>T

1 paper

NM_014249.4

p.R158delFs

c.473delG

1 paper

NM_014249.4

p.P143fs

c.427_428fs

2 papers

NM_014249.4

p.R158Q

c.473G>A

1 paper

NM_014249.4

p.G159S

c.475G>A