Varaico: Literature-Extracted Genetic Variants

Gene:PERM1
Variant:p.S512G

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
2 papers
NM_001394713.1
p.S512G
c.1534A>G
Surrounding Variants
2 papers
NM_001394713.1
p.Q520E
c.1558C>G
1 paper
NM_001394713.1
p.P528P
c.1584C>A
3 papers
NM_001394713.1
p.A490A
c.1470A>G
1 paper
NM_001394713.1
p.P538A
c.1612C>G
1 paper
NM_001394713.1
p.G537insFs
c.1611dupG
1 paper
NM_001394713.1
p.P538fs
c.1612_1613fs
2 papers
NM_001394713.1
p.R554Q
c.1661G>A
1 paper
NM_001394713.1
p.P563fs
c.1687_1688fs
1 paper
NM_001394713.1
p.P563delFs
c.1688delG
1 paper
NM_001394713.1
p.W459*
c.1377G>A
1 paper
NM_001394713.1
p.W459*
c.1376G>A
1 paper
NM_001394713.1
p.S565C
c.1694C>G
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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."