Varaico: Literature-Extracted Genetic Variants

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_138711.6

p.A116A

c.348T>C

Surrounding Variants

1 paper

NM_138711.6

p.A116V

c.347C>T

1 paper

NM_138711.6

p.S117F

c.350C>T

2 papers

NM_015869.5

p.G148E

c.443G>A

1 paper

NM_138711.6

p.H120N

c.358C>A

1 paper

NM_015869.5

p.H150L

c.449A>T

1 paper

NM_138711.6

p.C112Y

c.335G>A

8 papers

NM_015869.5

p.Y151C

c.452A>G

NM_138711.6

p.Y121C

c.362A>G

5 papers

NM_015869.5

p.C142R

c.424T>C

NM_138711.6

p.C112R

c.334T>C

1 paper

NM_138711.6

p.E108E

c.324A>G

1 paper

NM_015869.5

p.E138fs

c.412_413fs

2 papers

NM_015869.5

p.E138fs

c.412_413fs

3 papers

NM_015869.5

p.E138_C139delFs

c.413_416del4