Varaico: Literature-Extracted Genetic Variants

Gene:PLP1
Variant:p.M1V

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
10 papers
NM_000533.5
p.M1V
c.1A>G
Surrounding Variants
1 paper
NM_000533.5
p.M1delins
c.1delinsC
1 paper
NM_000533.5
p.M1L
c.1A>T
1 paper
NM_000533.5
p.M1delFs
c.2delT
1 paper
NM_000533.5
p.M1insFs
c.1dupA
9 papers
NM_000533.5
p.M1T
c.2T>C
5 papers
NM_000533.5
p.M1R
c.2T>G
1 paper
NM_000533.5
p.G2delFs
c.4delG
7 papers
NM_000533.5
p.M1I
c.3G>A
5 papers
NM_000533.5
p.M1I
c.3G>C
7 papers
NM_000533.5
p.M1I
c.3G>T
1 paper
NM_000533.5
p.G2C
c.4G>T
2 papers
NM_000533.5
p.G2Splc
c.4+1G>A
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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."