Varaico: Literature-Extracted Genetic Variants

Gene:PERM1

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
1–12 of 44 variants
4 papers
NM_001394713.1
p.V777A
c.2330T>C
3 papers
NM_001394713.1
p.A490A
c.1470A>G
3 papers
NM_001394713.1
p.P613L
c.1838C>T
2 papers
NM_001394713.1
p.S512G
c.1534A>G
2 papers
NM_001394713.1
p.Q520E
c.1558C>G
2 papers
NM_001394713.1
p.R554Q
c.1661G>A
2 papers
NM_001394713.1
p.A759G
c.2276C>G
1 paper
NM_001394713.1
p.S34F
c.101C>T
1 paper
NM_001394713.1
p.P103L
c.308C>T
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
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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."