Varaico: Literature-Extracted Genetic Variants

Gene:PLP1
Variant:p.G123G

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
1 paper
NM_000533.5
p.G123G
c.369G>A
Surrounding Variants
2 papers
NM_000533.5
p.G125delFs
c.374delG
3 papers
NM_000533.5
p.R124fs
c.370_371fs
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
2 papers
NM_000533.5
p.G125fs
c.373_374fs
2 papers
NM_000533.5
p.R124_G125delFs
c.370_374del5
1 paper
NM_000533.5
p.K122_G123delFs
c.364_368del5
1 paper
NM_000533.5
p.Q121fs
c.361_362fs
2 papers
NM_000533.5
p.R127_Q131delFs
c.380_392del13
2 papers
NM_000533.5
p.G120G
c.360C>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."