Varaico: Literature-Extracted Genetic Variants

Gene:PLP1
Variant:p.G125fs

PLP1

670 papers

RefSeq Summary

This gene encodes a transmembrane proteolipid protein that is the predominant component of myelin. The encoded protein may play a role in the compaction, stabilization, and maintenance of myelin sheat...

Pfam Domains

Myelin_PLPaa 4–273UCSCMyelin proteolipid protein (PLP or lipophilin)

Gene Aliases

HGNC Name

proteolipid protein 1

HGNC Alias Symbol

GPM6C

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_000533.5
p.G125fs
c.373_374fs
Surrounding Variants
2 papers
NM_000533.5
p.G125delFs
c.374delG
3 papers
NM_000533.5
p.R124fs
c.370_371fs
2 papers
NM_000533.5
p.R127_Q131delFs
c.380_392del13
1 paper
NM_000533.5
p.G123G
c.369G>A
1 paper
NM_000533.5
p.R127fs
c.379_380fs
1 paper
NM_000533.5
p.G123R
c.367G>A
1 paper
NM_000533.5
p.G123R
c.367G>C
1 paper
NM_000533.5
p.R124_G125delFs
c.370_373del4
1 paper
NM_000533.5
p.K122R
c.365A>G
1 paper
NM_000533.5
p.R127S
c.381A>T
1 paper
NM_000533.5
p.R127_Q131Fs
c.381_392delinsCCFs
2 papers
NM_000533.5
p.R124_G125delFs
c.370_374del5
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