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

2 papers

NM_006238.5

p.V279I

c.835G>A

Surrounding Variants

1 paper

NM_006238.5

p.L273L

c.819C>T

1 paper

NM_006238.5

p.S272T

c.815G>C

1 paper

NM_006238.5

p.V286M

c.856G>A

1 paper

NM_006238.5

p.H287Y

c.859C>T

1 paper

NM_006238.5

p.H287R

c.860A>G

1 paper

NM_006238.5

p.A292V

c.875C>T

1 paper

NM_006238.5

p.A264V

c.791C>T

1 paper

NM_006238.5

p.F263F

c.789C>T

1 paper

NM_006238.5

p.I297I

c.891C>T

1 paper

NM_006238.5

p.N299D

c.895A>G

1 paper

NM_006238.5

p.E259K

c.775G>A

1 paper

NM_006238.5

p.R258Q

c.773G>A