Varaico: Literature-Extracted Genetic Variants

Gene:PLP1
Variant:p.Y175C

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.Y175C
c.524A>G
Surrounding Variants
1 paper
NM_000533.5
p.I176N
c.527T>A
2 papers
NM_000533.5
p.V174M
c.520G>A
1 paper
NM_000533.5
p.V174fs
c.520_521fs
1 paper
NM_000533.5
p.V174insFs
c.520dupG
1 paper
NM_000533.5
p.P173R
c.518C>G
1 paper
NM_000533.5
p.P173_Y175Fs
c.518_523delinsAFs
11 papers
NM_000533.5
p.P173S
c.517C>T
3 papers
NM_000533.5
p.V172A
c.515T>C
2 papers
NM_000533.5
p.N179H
c.535A>C
1 paper
NM_000533.5
p.A171P
c.511G>C
2 papers
NM_000533.5
p.T180P
c.538A>C
3 papers
NM_000533.5
p.S170F
c.509C>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."