Varaico: Literature-Extracted Genetic Variants

Gene:PPARG
Variant:p.K190E

PPARG

903 papers

RefSeq Summary

This gene encodes a member of the peroxisome proliferator-activated receptor (PPAR) subfamily of nuclear receptors. PPARs form heterodimers with retinoid X receptors (RXRs) and these heterodimers regu...

Pfam Domains

PPARgamma_Naa 1–78UCSCPPAR gamma N-terminal region
zf-C4aa 107–175UCSCDouble treble clef zinc finger, C4 type
zf-C4aa 137–205UCSCDouble treble clef zinc finger, C4 type
Hormone_recepaa 269–456UCSCLigand-binding domain of nuclear hormone receptor

Gene Aliases

HGNC Name

peroxisome proliferator activated receptor gamma

HGNC Alias Symbols

PPARG1; PPARG2; NR1C3; PPARgamma

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_138711.6
p.K190E
c.568A>G
Surrounding Variants
1 paper
NM_138711.6
p.K190Q
c.568A>C
1 paper
NM_138711.6
p.K190*
c.568A>T
1 paper
NM_138711.6
p.K190T
c.569A>C
1 paper
NM_138711.6
p.K190R
c.569A>G
1 paper
NM_138711.6
p.K190M
c.569A>T
1 paper
NM_138711.6
p.E189E
c.567G>A
1 paper
NM_138711.6
p.E189D
c.567G>C
1 paper
NM_138711.6
p.K190insFs
c.569_570insA
1 paper
NM_138711.6
p.E189D
c.567G>T
1 paper
NM_138711.6
p.E189A
c.566A>C
1 paper
NM_138711.6
p.E189G
c.566A>G
1 paper
NM_138711.6
p.E189V
c.566A>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."