Varaico: Literature-Extracted Genetic Variants

Gene:NR2F2
Variant:p.E251D

NR2F2

162 papers

RefSeq Summary

This gene encodes a member of the steroid thyroid hormone superfamily of nuclear receptors. The encoded protein is a ligand inducible transcription factor that is involved in the regulation of many di...

Pfam Domains

zf-C4aa 77–146UCSCDouble treble clef zinc finger, C4 type
zf-C4aa 77–146UCSCDouble treble clef zinc finger, C4 type
Hormone_recepaa 197–387UCSCLigand-binding domain of nuclear hormone receptor

Gene Aliases

HGNC Name

nuclear receptor subfamily 2 group F member 2

HGNC Previous Symbols

ARP1; TFCOUP2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_021005.4
p.E251D
c.753G>T
Surrounding Variants
5 papers
NM_021005.4
p.E251D
c.753G>C
1 paper
NM_021005.4
p.E251K
c.751G>A
1 paper
NM_021005.4
p.L252P
c.755T>C
3 papers
NM_021005.4
p.W249*
c.747G>A
3 papers
NM_021005.4
p.W249*
c.746G>A
1 paper
NM_021005.4
p.V254A
c.761T>C
3 papers
NM_021005.4
p.R246H
c.737G>A
1 paper
NM_021005.4
p.L245F
c.733C>T
1 paper
NM_021005.4
p.A258V
c.773C>T
2 papers
NM_021005.4
p.Q259*
c.775C>T
1 paper
NM_021005.4
p.L244L
c.730C>T
1 paper
NM_021005.4
p.A243fs
c.727_728fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."