Varaico: Literature-Extracted Genetic Variants

Gene:PLP1
Variant:p.C139fs

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
1 paper
NM_000533.5
p.C139fs
c.415_416fs
Surrounding Variants
1 paper
NM_000533.5
p.C139_H140Fs
c.415_418delinsAGTFs
7 papers
NM_000533.5
p.H140Y
c.418C>T
1 paper
NM_000533.5
p.C141_L142delFs
c.423_426del4
3 papers
NM_000533.5
p.R137Q
c.410G>A
8 papers
NM_000533.5
p.R137G
c.409C>G
14 papers
NM_000533.5
p.R137W
c.409C>T
1 paper
NM_000533.5
p.V138delFs
c.412delG
1 paper
NM_000533.5
p.L142insFs
c.425dupT
1 paper
NM_000533.5
p.E136Q
c.406G>C
3 papers
NM_000533.5
p.E136fs
c.406_407fs
2 papers
NM_000533.5
p.L142F
c.426G>C
1 paper
NM_000533.5
p.L142F
c.426G>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."