Varaico: Literature-Extracted Genetic Variants

Gene:PPARG
Variant:p.C190S

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
2 papers
NM_015869.5
p.C190S
c.568T>A
Surrounding Variants
2 papers
NM_015869.5
p.C190S
c.569G>C
1 paper
NM_138711.6
p.C160*
c.480T>A
2 papers
NM_015869.5
p.C190W
c.570T>G
1 paper
NM_015869.5
p.Q191*
c.571C>T
1 paper
NM_138711.6
p.N158K
c.474T>A
2 papers
NM_015869.5
p.N188H
c.562A>C
1 paper
NM_138711.6
p.N158D
c.472A>G
1 paper
NM_138711.6
p.Y162N
c.484T>A
1 paper
NM_138711.6
p.N158delFs
c.472delA
1 paper
NM_138711.6
p.C163Y
c.488G>A
1 paper
NM_138711.6
p.S156R
c.468T>A
2 papers
NM_138711.6
p.C163C
c.489T>C
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