Varaico: Literature-Extracted Genetic Variants

Gene:PLP1
Variant:p.A96_V97del2

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
2 papers
NM_000533.5
p.A96_V97del2
c.286_290del6
Surrounding Variants
1 paper
NM_000533.5
p.G95fs
c.283_284fs
1 paper
NM_000533.5
p.T94I
c.281C>T
2 papers
NM_000533.5
p.T94delFs
c.282delC
1 paper
NM_000533.5
p.T93T
c.279C>G
1 paper
NM_000533.5
p.T93N
c.278C>A
1 paper
NM_000533.5
p.T93I
c.278C>T
1 paper
NM_000533.5
p.V97D
c.290T>A
3 papers
NM_000533.5
p.Y92*
c.276C>A
3 papers
NM_000533.5
p.Y92*
c.276C>G
2 papers
NM_000533.5
p.Y92F
c.275A>T
1 paper
NM_000533.5
p.Y92delFs
c.276delC
2 papers
NM_000533.5
p.R98K
c.293G>A
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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."