Varaico: Literature-Extracted Genetic Variants

Gene:PLP1
Variant:p.Y207H

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
11 papers
NM_000533.5
p.Y207H
c.619T>C
Surrounding Variants
2 papers
NM_000533.5
p.Y207C
c.620A>G
1 paper
NM_000533.5
p.Y207F
c.620A>T
1 paper
NM_000533.5
p.M206I
c.618G>A
1 paper
NM_000533.5
p.M206I
c.618G>C
1 paper
NM_000533.5
p.M206I
c.618G>T
3 papers
NM_000533.5
p.M206K
c.617T>A
1 paper
NM_000533.5
p.Y207*
c.621T>A
2 papers
NM_000533.5
p.M206T
c.617T>C
1 paper
NM_000533.5
p.Y207*
c.621T>G
6 papers
NM_000533.5
p.G208D
c.623G>A
4 papers
NM_000533.5
p.G208V
c.623G>T
3 papers
NM_000533.5
p.R205K
c.614G>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."