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.T101M

c.302C>T

Surrounding Variants

1 paper

NM_006238.5

p.R103C

c.307C>T

1 paper

NM_006238.5

p.R99S

c.295C>A

3 papers

NM_006238.5

p.F98F

c.294C>T

1 paper

NM_006238.5

p.Y108Y

c.324C>T

1 paper

NM_006238.5

p.C115_I117delFs

c.344_351del8

1 paper

NM_006238.5

p.Q118H

c.354G>C

1 paper

NM_006238.5

p.Q118H

c.354G>T

1 paper

NM_006238.5

p.A135A

c.405A>C

1 paper

NM_006238.5

p.A142S

c.424G>T

1 paper

NM_006238.5

p.A142Splc

c.424+31G>A

1 paper

NM_006238.5

p.A142Splc

c.424+127A>G

1 paper

NM_006238.5

p.K95_G96Splc

c.285+40T>C