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

26 papers

NM_014249.4

p.R76Q

c.227G>A

Surrounding Variants

19 papers

NM_014249.4

p.R76W

c.226C>T

2 papers

NM_014249.4

p.R76delFs

c.228delG

1 paper

NM_014249.4

p.V75_R76insFs

c.225_226insC

3 papers

NM_014249.4

p.R77W

c.229C>T

1 paper

NM_014249.4

p.R77fs

c.229_230fs

4 papers

NM_014249.4

p.R77Q

c.230G>A

2 papers

NM_014249.4

p.V75insFs

c.224_225insC

1 paper

NM_014249.4

p.V75I

c.223G>A

1 paper

NM_014249.4

p.V75L

c.223G>C

1 paper

NM_014249.4

p.V75insFs

c.223_224insC

1 paper

NM_014249.4

p.V75L

c.223G>T

1 paper

NM_014249.4

p.S74N

c.221G>A