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

1 paper

NM_138711.6

p.D50Y

c.148G>T

Surrounding Variants

1 paper

NM_138711.6

p.D50N

c.148G>A

1 paper

NM_138711.6

p.D50A

c.149A>C

1 paper

NM_138711.6

p.E49V

c.146A>T

1 paper

NM_138711.6

p.D50_T54del5

c.148_161del15

1 paper

NM_138711.6

p.D50D

c.150C>T

2 papers

NM_138711.6

p.E49K

c.145G>A

2 papers

NM_138711.6

p.Y48*

c.144C>A

1 paper

NM_138711.6

p.Y48Y

c.144C>T

1 paper

NM_138711.6

p.Y48F

c.143A>T

1 paper

NM_138711.6

p.Y48H

c.142T>C

1 paper

NM_138711.6

p.Y48fs

c.142_143fs

1 paper

NM_138711.6

p.P52P

c.156A>T