Varaico: Literature-Extracted Genetic Variants

Gene:PERM1
Variant:p.P103L

PERM1

34 papers

Pfam Domains

PERM1aa 1–675UCSCPGC-1 and ERR-induced regulator in muscle protein 1
PERM1aa 701–777UCSCPGC-1 and ERR-induced regulator in muscle protein 1

Gene Aliases

HGNC Name

PPARGC1 and ESRR induced regulator, muscle 1

HGNC Previous Symbol

C1orf170

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001394713.1
p.P103L
c.308C>T
Surrounding Variants
1 paper
NM_001394713.1
p.A111D
c.332C>A
1 paper
NM_001394713.1
p.S114_A119delFs
c.341_356del16
1 paper
NM_001394713.1
p.R140R
c.420G>A
1 paper
NM_001394713.1
p.T164delFs
c.491delG
1 paper
NM_001394713.1
p.S34F
c.101C>T
1 paper
NM_001394713.1
p.G192R
c.574G>A
1 paper
NM_001394713.1
p.P207R
c.620C>G
1 paper
NM_001394713.1
p.M220I
c.660G>T
1 paper
NM_001394713.1
p.M220I
c.660G>C
1 paper
NM_001394713.1
p.M220I
c.660G>A
1 paper
NM_001394713.1
p.E227K
c.679G>A
1 paper
NM_001394713.1
p.L288F
c.862C>T
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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."