Varaico: Literature-Extracted Genetic Variants

Gene:PLP1
Variant:p.G198D

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
5 papers
NM_000533.5
p.G198D
c.593G>A
Surrounding Variants
1 paper
NM_000533.5
p.G198G
c.594C>A
1 paper
NM_000533.5
p.G198S
c.592G>A
5 papers
NM_000533.5
p.G198R
c.592G>C
1 paper
NM_000533.5
p.S196_I197Fs
c.586_591delinsTATACFs
1 paper
NM_000533.5
p.C201S
c.601T>A
1 paper
NM_000533.5
p.C201R
c.601T>C
1 paper
NM_000533.5
p.A195G
c.584C>G
1 paper
NM_000533.5
p.C201Y
c.602G>A
1 paper
NM_000533.5
p.C201S
c.602G>C
1 paper
NM_000533.5
p.S194F
c.581C>T
1 paper
NM_000533.5
p.A202V
c.605C>T
1 paper
NM_000533.5
p.A202A
c.606T>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."