Varaico: Literature-Extracted Genetic Variants

Gene:PLP1
Variant:p.T116K

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
10 papers
NM_000533.5
p.T116K
c.347C>A
Surrounding Variants
1 paper
NM_000533.5
p.T116M
c.347C>T
1 paper
NM_000533.5
p.V117_T118insCA
c.349_353ins6
6 papers
NM_000533.5
p.A115E
c.344C>A
3 papers
NM_000533.5
p.A115V
c.344C>T
1 paper
NM_000533.5
p.T118S
c.352A>T
4 papers
NM_000533.5
p.T118R
c.353C>G
2 papers
NM_000533.5
p.T118delFs
c.354delA
5 papers
NM_000533.5
p.T118_G119delFs
c.354_355delAG
2 papers
NM_000533.5
p.G120_G123delFs
c.359_369del11
2 papers
NM_000533.5
p.G119insFs
c.355dupG
1 paper
NM_000533.5
p.G120fs
c.358_359fs
3 papers
NM_000533.5
p.G120fs
c.358_359fs
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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."