Varaico: Literature-Extracted Genetic Variants

Gene:NR2C2
Variant:p.G126D

NR2C2

280 papers

RefSeq Summary

This gene encodes a protein that belongs to the nuclear hormone receptor family. Members of this family act as ligand-activated transcription factors and function in many biological processes such as ...

Pfam Domains

zf-C4aa 115–184UCSCDouble treble clef zinc finger, C4 type
Hormone_recepaa 371–567UCSCLigand-binding domain of nuclear hormone receptor

Gene Aliases

HGNC Name

nuclear receptor subfamily 2 group C member 2

HGNC Previous Symbol

TR4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001291694.2
p.G126D
c.377G>A
Surrounding Variants
1 paper
NM_001291694.2
p.C120Y
c.359G>A
1 paper
NM_001291694.2
p.C117Y
c.350G>A
1 paper
NM_001291694.2
p.E115G
c.344A>G
1 paper
NM_001291694.2
p.E115Q
c.343G>C
1 paper
NM_001291694.2
p.Q112K
c.334C>A
1 paper
NM_001291694.2
p.T94M
c.281C>T
1 paper
NM_001291694.2
p.N84delFs
c.252delC
1 paper
NM_001291694.2
p.L77P
c.230T>C
1 paper
NM_001291694.2
p.S72A
c.214T>G
1 paper
NM_001291694.2
p.E70Q
c.208G>C
1 paper
NM_001291694.2
p.A67A
c.201T>A
1 paper
NM_001291694.2
p.I65_L66insFs
c.195_196insT
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