Varaico: Literature-Extracted Genetic Variants

Gene:PPARG
Variant:p.E458A

PPARG

903 papers

RefSeq Summary

This gene encodes a member of the peroxisome proliferator-activated receptor (PPAR) subfamily of nuclear receptors. PPARs form heterodimers with retinoid X receptors (RXRs) and these heterodimers regu...

Pfam Domains

PPARgamma_Naa 1–78UCSCPPAR gamma N-terminal region
zf-C4aa 107–175UCSCDouble treble clef zinc finger, C4 type
zf-C4aa 137–205UCSCDouble treble clef zinc finger, C4 type
Hormone_recepaa 269–456UCSCLigand-binding domain of nuclear hormone receptor

Gene Aliases

HGNC Name

peroxisome proliferator activated receptor gamma

HGNC Alias Symbols

PPARG1; PPARG2; NR1C3; PPARgamma

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_138711.6
p.E458A
c.1373A>C
Surrounding Variants
1 paper
NM_138711.6
p.K455R
c.1364A>G
1 paper
NM_138711.6
p.I454delFs
c.1361delT
1 paper
NM_138711.6
p.V453V
c.1359G>A
1 paper
NM_138711.6
p.P465S
c.1393C>T
35 papers
NM_015869.5
p.P495L
c.1484C>T
NM_138711.6
p.P465L
c.1394C>T
7 papers
NM_138711.6
p.L451P
c.1352T>C
1 paper
NM_138711.6
p.L451V
c.1351C>G
2 papers
NM_138711.6
p.Q449L
c.1346A>T
1 paper
NM_138711.6
p.L467Q
c.1400T>A
1 paper
NM_138711.6
p.Q449*
c.1345C>T
1 paper
NM_015869.5
p.E499delFs
c.1495delG
1 paper
NM_015869.5
p.V478G
c.1433T>G
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