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

1–12 of 365 variants

117 papers

NM_014249.4

p.R311Q

c.932G>A

96 papers

NM_014249.4

p.G40Splc

c.119-2A>C

77 papers

NM_014249.4

p.G56R

c.166G>A

73 papers

NM_014249.4

p.G56R

c.166G>C

26 papers

NM_014249.4

p.R76Q

c.227G>A

25 papers

NM_014249.4

p.R104Q

c.311G>A

21 papers

NM_014249.4

p.R104W

c.310C>T

21 papers

NM_014249.4

p.A256E

c.767C>A

19 papers

NM_014249.4

p.R76W

c.226C>T

17 papers

NM_014249.4

p.T161delFs

c.481delA

15 papers

NM_014249.4

p.R97H

c.290G>A

15 papers

NM_014249.4

p.E121K

c.361G>A