Varaico: Literature-Extracted Genetic Variants

Gene:PLP1
Variant:p.L81R

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
5 papers
NM_000533.5
p.L81R
c.242T>G
Surrounding Variants
1 paper
NM_000533.5
p.Y82H
c.244T>C
1 paper
NM_000533.5
p.Y82F
c.245A>T
1 paper
NM_000533.5
p.F80insFs
c.239_240insC
2 papers
NM_000533.5
p.Y82*
c.246T>A
6 papers
NM_000533.5
p.G83R
c.247G>A
6 papers
NM_000533.5
p.G83R
c.247G>C
1 paper
NM_000533.5
p.A84T
c.250G>A
1 paper
NM_000533.5
p.A84delFs
c.251delC
3 papers
NM_000533.5
p.A84D
c.251C>A
1 paper
NM_000533.5
p.F78fs
c.232_233fs
1 paper
NM_000533.5
p.L85F
c.253C>T
6 papers
NM_000533.5
p.F80del1
c.238_239delTTC
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."