Varaico: Literature-Extracted Genetic Variants

Gene:PLP1
Variant:p.V252I

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.V252I
c.754G>A
Surrounding Variants
1 paper
NM_000533.5
p.V252_S253delFs
c.755_758del4
1 paper
NM_000533.5
p.L251P
c.752T>C
1 paper
NM_000533.5
p.S253T
c.757T>A
3 papers
NM_000533.5
p.S253F
c.758C>T
1 paper
NM_000533.5
p.A249G
c.746C>G
5 papers
NM_000533.5
p.L254L
c.762G>T
4 papers
NM_000533.5
p.A249T
c.745G>A
2 papers
NM_000533.5
p.L254_L255Splc
c.762+1G>A
4 papers
NM_000533.5
p.A249P
c.745G>C
2 papers
NM_000533.5
p.L254_L255Splc
c.762+2T>A
3 papers
NM_000533.5
p.L254_L255Splc
c.762+2T>C
4 papers
NM_000533.5
p.A248E
c.743C>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."