Varaico: Literature-Extracted Genetic Variants

Gene:PLP1
Variant:p.Y70F

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
4 papers
NM_000533.5
p.Y70F
c.209A>T
Surrounding Variants
8 papers
NM_000533.5
p.Y70*
c.210T>A
10 papers
NM_000533.5
p.Y70*
c.210T>G
2 papers
NM_000533.5
p.V71D
c.212T>A
4 papers
NM_000533.5
p.Q69*
c.205C>T
1 paper
NM_000533.5
p.A67A
c.201C>A
1 paper
NM_000533.5
p.F68insFs
c.203dupT
1 paper
NM_000533.5
p.A67A
c.201C>G
1 paper
NM_000533.5
p.Y73insFs
c.218_219insT
1 paper
NM_000533.5
p.A67D
c.200C>A
1 paper
NM_000533.5
p.A67V
c.200C>T
1 paper
NM_000533.5
p.A67T
c.199G>A
1 paper
NM_000533.5
p.Y73Y
c.219T>C
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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."