Varaico: Literature-Extracted Genetic Variants

Gene:PPARG
Variant:p.D439E

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.D439E
c.1317C>G
Surrounding Variants
1 paper
NM_138711.6
p.D439E
c.1317C>A
2 papers
NM_015869.5
p.T468K
c.1403C>A
1 paper
NM_138711.6
p.M437I
c.1311G>T
1 paper
NM_138711.6
p.Q442H
c.1326G>C
2 papers
NM_138711.6
p.V444A
c.1331T>C
2 papers
NM_015869.5
p.L464R
c.1391T>G
3 papers
NM_015869.5
p.T475M
c.1424C>T
2 papers
NM_138711.6
p.T445T
c.1335G>A
1 paper
NM_138711.6
p.E446_K455delFs
c.1337_1365del29
1 paper
NM_138711.6
p.L433M
c.1297C>A
1 paper
NM_138711.6
p.K432T
c.1295A>C
1 paper
NM_015869.5
p.H477L
c.1430A>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."