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.R321H

c.962G>A

Surrounding Variants

1 paper

NM_006238.5

p.P323R

c.968C>G

1 paper

NM_006238.5

p.R318C

c.952C>T

1 paper

NM_006238.5

p.R314C

c.940C>T

1 paper

NM_006238.5

p.I328M

c.984T>G

1 paper

NM_006238.5

p.G308D

c.923G>A

1 paper

NM_006238.5

p.G308S

c.922G>A

2 papers

NM_006238.5

p.N339D

c.1015A>G

1 paper

NM_006238.5

p.A340T

c.1018G>A

1 paper

NM_006238.5

p.N299D

c.895A>G

1 paper

NM_006238.5

p.D344_F351del8

c.1030_1052del24

1 paper

NM_006238.5

p.I297I

c.891C>T

2 papers

NM_006238.5

p.D347A

c.1040A>C