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

Selected Variant

1 paper

NM_006238.5

p.Y42C

c.125A>G

Surrounding Variants

1 paper

NM_006238.5

p.Y42S

c.125A>C

1 paper

NM_006238.5

p.T43A

c.127A>G

2 papers

NM_006238.5

p.D44Splc

c.130+3G>A

1 paper

NM_006238.5

p.L37F

c.109C>T

1 paper

NM_006238.5

p.G32G

c.96A>G

11 papers

NM_006238.5

p.G32E

c.95G>A

2 papers

NM_006238.5

p.N30S

c.89A>G

1 paper

NM_006238.5

p.D44Splc

c.130+31C>T

2 papers

NM_006238.5

p.L29L

c.87C>T

1 paper

NM_006238.5

p.E28_L29insFs

c.84_85insT

1 paper

NM_006238.5

p.G25*

c.73G>T

4 papers

NM_006238.5

p.E24K

c.70G>A