Varaico: Literature-Extracted Genetic Variants

Gene:PPARGC1B
Variant:p.A730_E731del1

PPARGC1B

119 papers

RefSeq Summary

The protein encoded by this gene stimulates the activity of several transcription factors and nuclear receptors, including estrogen receptor alpha, nuclear respiratory factor 1, and glucocorticoid rec...

Pfam Domains

RRM_1aa 904–962UCSCRNA recognition motif

Gene Aliases

HGNC Name

PPARG coactivator 1 beta

HGNC Alias Symbols

PERC; PGC1B; PPARAGCIβ

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_133263.4
p.A730_E731del1
c.2190_2192delTGA
Surrounding Variants
1 paper
NM_133263.4
p.A730_E731ins4
c.2188_2192ins12
1 paper
NM_133263.4
p.W729*
c.2187G>A
1 paper
NM_133263.4
p.W729*
c.2186G>A
1 paper
NM_133263.4
p.E731D
c.2193G>C
1 paper
NM_133263.4
p.R737_D740del4
c.2209_2219del12
1 paper
NM_133263.4
p.R706S
c.2118G>C
1 paper
NM_133263.4
p.L755_R756del2
c.2263_2267del6
2 papers
NM_133263.4
p.L755_R756del1
c.2265_2267delGAG
3 papers
NM_001172698.2
p.R722C
c.2164C>T
NM_133263.4
p.R761C
c.2281C>T
1 paper
NM_133263.4
p.D693Y
c.2077G>T
2 papers
NM_133263.4
p.G690V
c.2069G>T
1 paper
NM_133263.4
p.L775P
c.2324T>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."