Varaico: Literature-Extracted Genetic Variants

Gene:PERM1
Variant:p.V777A

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
4 papers
NM_001394713.1
p.V777A
c.2330T>C
Surrounding Variants
2 papers
NM_001394713.1
p.A759G
c.2276C>G
1 paper
NM_001394713.1
p.T747K
c.2240C>A
1 paper
NM_001394713.1
p.A695fs
c.2083_2084fs
1 paper
NM_001394713.1
p.E693Q
c.2077G>C
3 papers
NM_001394713.1
p.P613L
c.1838C>T
1 paper
NM_001394713.1
p.E599Q
c.1795G>C
1 paper
NM_001394713.1
p.S565C
c.1694C>G
1 paper
NM_001394713.1
p.P563fs
c.1687_1688fs
1 paper
NM_001394713.1
p.P563delFs
c.1688delG
2 papers
NM_001394713.1
p.R554Q
c.1661G>A
1 paper
NM_001394713.1
p.P538fs
c.1612_1613fs
1 paper
NM_001394713.1
p.P538A
c.1612C>G
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