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.H58_I61del0

c.174_182del9

Surrounding Variants

1 paper

NM_014249.4

p.H58_Y59insFs

c.174_175insA

1 paper

NM_014249.4

p.H58fs

c.172_173fs

1 paper

NM_014249.4

p.H58delFs

c.173_174delAC

1 paper

NM_014249.4

p.H58_I61del4

c.172_182del12

1 paper

NM_014249.4

p.G60A

c.179G>C

77 papers

NM_014249.4

p.G56R

c.166G>A

73 papers

NM_014249.4

p.G56R

c.166G>C

1 paper

NM_014249.4

p.S54N

c.161G>A

1 paper

NM_014249.4

p.A63T

c.187G>A

3 papers

NM_014249.4

p.A63D

c.188C>A

10 papers

NM_014249.4

p.N65_S68del0

c.194_202del9

1 paper

NM_014249.4

p.S55ins0

c.163_165dupAGC