Varaico: Literature-Extracted Genetic Variants

Gene:PLP1
Variant:p.H133P

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.H133P
c.398A>C
Surrounding Variants
1 paper
NM_000533.5
p.H133R
c.398A>G
1 paper
NM_000533.5
p.S134C
c.401C>G
3 papers
NM_000533.5
p.A132V
c.395C>T
4 papers
NM_000533.5
p.E136_C141delFs
c.406_422del17
4 papers
NM_000533.5
p.L135W
c.404T>G
3 papers
NM_000533.5
p.Q131*
c.391C>T
1 paper
NM_000533.5
p.E136Q
c.406G>C
3 papers
NM_000533.5
p.E136fs
c.406_407fs
1 paper
NM_000533.5
p.H130N
c.388C>A
3 papers
NM_000533.5
p.H130Y
c.388C>T
8 papers
NM_000533.5
p.R137G
c.409C>G
14 papers
NM_000533.5
p.R137W
c.409C>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."