Varaico: Literature-Extracted Genetic Variants

PPARD

143 papers

RefSeq Summary

This gene encodes a member of the peroxisome proliferator-activated receptor (PPAR) family. The encoded protein is thought to function as an integrator of transcriptional repression and nuclear recept...

Pfam Domains

zf-C4aa 72–140UCSCDouble treble clef zinc finger, C4 type

Hormone_recepaa 236–422UCSCLigand-binding domain of nuclear hormone receptor

Gene Aliases

HGNC Name

peroxisome proliferator activated receptor delta

HGNC Alias Symbols

NUC1; NUCII; FAAR; NR1C2; PPARB

Papers

RefSeq ID

Protein change

DNA change

1–12 of 129 variants

11 papers

NM_006238.5

p.G32E

c.95G>A

4 papers

NM_006238.5

p.E24K

c.70G>A

3 papers

NM_006238.5

p.E22G

c.65A>G

3 papers

NM_006238.5

p.F98F

c.294C>T

2 papers

NM_006238.5

p.L29L

c.87C>T

2 papers

NM_006238.5

p.N30S

c.89A>G

2 papers

NM_006238.5

p.D44Splc

c.130+3G>A

2 papers

NM_006238.5

p.L58L

c.174G>C

2 papers

NM_006238.5

p.A65G

c.194C>G

2 papers

NM_006238.5

p.R75W

c.223C>T

2 papers

NM_006238.5

p.T101M

c.302C>T

2 papers

NM_006238.5

p.G159E

c.476G>A