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.A185T

c.553G>A

Surrounding Variants

1 paper

NM_006238.5

p.A185S

c.553G>T

1 paper

NM_006238.5

p.Y183C

c.548A>G

1 paper

NM_006238.5

p.I182insFs

c.544_545ins5

1 paper

NM_006238.5

p.K188I

c.563A>T

1 paper

NM_006238.5

p.H181R

c.542A>G

1 paper

NM_006238.5

p.K195K

c.585G>A

1 paper

NM_006238.5

p.D174N

c.520G>A

1 paper

NM_006238.5

p.R198S

c.592C>A

1 paper

NM_006238.5

p.Q167L

c.500A>T

1 paper

NM_006238.5

p.K204*

c.610A>T

1 paper

NM_006238.5

p.S206C

c.616A>T

2 papers

NM_006238.5

p.N163N

c.489C>T