Varaico: Literature-Extracted Genetic Variants

Gene:PPARG
Variant:p.L451P

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
7 papers
NM_138711.6
p.L451P
c.1352T>C
Surrounding Variants
1 paper
NM_138711.6
p.L451V
c.1351C>G
2 papers
NM_138711.6
p.Q449L
c.1346A>T
1 paper
NM_138711.6
p.Q449*
c.1345C>T
1 paper
NM_138711.6
p.V453V
c.1359G>A
1 paper
NM_138711.6
p.I454delFs
c.1361delT
1 paper
NM_015869.5
p.V478G
c.1433T>G
9 papers
NM_015869.5
p.H477H
c.1431C>T
NM_138711.6
p.H447H
c.1341C>T
1 paper
NM_138711.6
p.K455R
c.1364A>G
1 paper
NM_015869.5
p.H477L
c.1430A>T
2 papers
NM_138711.6
p.T445T
c.1335G>A
1 paper
NM_138711.6
p.E446_K455delFs
c.1337_1365del29
3 papers
NM_015869.5
p.T475M
c.1424C>T
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