Varaico: Literature-Extracted Genetic Variants

Gene:PLP1
Variant:p.Y73insFs

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.Y73insFs
c.218_219insT
Surrounding Variants
1 paper
NM_000533.5
p.Y73Y
c.219T>C
6 papers
NM_000533.5
p.G74R
c.220G>A
8 papers
NM_000533.5
p.G74R
c.220G>C
4 papers
NM_000533.5
p.G74E
c.221G>A
1 paper
NM_000533.5
p.G74A
c.221G>C
4 papers
NM_000533.5
p.T75P
c.223A>C
2 papers
NM_000533.5
p.V71D
c.212T>A
1 paper
NM_000533.5
p.T75T
c.225T>A
5 papers
NM_000533.5
p.A76P
c.226G>C
8 papers
NM_000533.5
p.Y70*
c.210T>A
10 papers
NM_000533.5
p.Y70*
c.210T>G
4 papers
NM_000533.5
p.Y70F
c.209A>T
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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."