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.Q418H

c.1254G>C

Surrounding Variants

1 paper

NM_138711.6

p.Q418H

c.1254G>T

1 paper

NM_138711.6

p.L419L

c.1255C>T

1 paper

NM_138711.6

p.Q418*

c.1252C>T

1 paper

NM_138711.6

p.L419R

c.1256T>G

1 paper

NM_015869.5

p.K450Q

c.1348A>C

1 paper

NM_138711.6

p.L417R

c.1250T>G

1 paper

NM_138711.6

p.K420_L421del1

c.1260_1262delGCT

1 paper

NM_015869.5

p.L451V

c.1351C>G

1 paper

NM_001354669.2

p.L212L

c.634C>T

3 papers

NM_015869.5

p.L451P

c.1352T>C

1 paper

NM_138711.6

p.L421L

c.1263G>C

1 paper

NM_138711.6

p.L415delFs

c.1245delG