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.Q57R

c.170A>G

Surrounding Variants

2 papers

NM_006238.5

p.L58L

c.174G>C

1 paper

NM_006238.5

p.S53L

c.158C>T

1 paper

NM_006238.5

p.C62S

c.185G>C

1 paper

NM_006238.5

p.S50L

c.149C>T

2 papers

NM_006238.5

p.A65G

c.194C>G

1 paper

NM_006238.5

p.S66_C67insG

c.196_200ins3

1 paper

NM_006238.5

p.R47Q

c.140G>A

1 paper

NM_006238.5

p.R47G

c.139C>G

1 paper

NM_006238.5

p.S69R

c.205A>C

1 paper

NM_006238.5

p.S69R

c.207C>A

1 paper

NM_006238.5

p.S69R

c.207C>G

1 paper

NM_006238.5

p.D44Splc

c.131-4G>A