Varaico: Literature-Extracted Genetic Variants

Gene:PLP1

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
1–12 of 574 variants
31 papers
NM_000533.5
p.A242V
c.725C>T
16 papers
NM_000533.5
p.A243V
c.728C>T
14 papers
NM_000533.5
p.R137W
c.409C>T
12 papers
NM_000533.5
p.I187T
c.560T>C
11 papers
NM_000533.5
p.P173S
c.517C>T
11 papers
NM_000533.5
p.Y207H
c.619T>C
10 papers
NM_000533.5
p.M1V
c.1A>G
10 papers
NM_000533.5
p.Y70*
c.210T>G
10 papers
NM_000533.5
p.L85P
c.254T>C
10 papers
NM_000533.5
p.T116K
c.347C>A
10 papers
NM_000533.5
p.F152I
c.454T>A
9 papers
NM_000533.5
p.M1T
c.2T>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."