Varaico: Literature-Extracted Genetic Variants

Gene:NR2F2
Variant:p.C134S

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
1 paper
NM_021005.4
p.C134S
c.401G>C
Surrounding Variants
1 paper
NM_021005.4
p.C134W
c.402C>G
1 paper
NM_021005.4
p.C134S
c.400T>A
1 paper
NM_021005.4
p.Y133_C134insFs
c.399_400insC
1 paper
NM_021005.4
p.L136L
c.408C>A
1 paper
NM_021005.4
p.L136L
c.408C>G
1 paper
NM_021005.4
p.Q130*
c.388C>T
1 paper
NM_021005.4
p.R128C
c.382C>T
1 paper
NM_021005.4
p.H126Y
c.376C>T
1 paper
NM_021005.4
p.A148V
c.443C>T
2 papers
NM_021005.4
p.A148Splc
c.442+1G>A
1 paper
NM_021005.4
p.A148Splc
c.442+1G>T
1 paper
NM_021005.4
p.N118I
c.353A>T
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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."