Varaico: Literature-Extracted Genetic Variants

Gene:PLP1
Variant:p.K151R

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
1 paper
NM_000533.5
p.K151R
c.452A>G
Surrounding Variants
6 papers
NM_000533.5
p.K151K
c.453G>A
9 papers
NM_000533.5
p.K151N
c.453G>C
9 papers
NM_000533.5
p.K151N
c.453G>T
6 papers
NM_000533.5
p.K151_F152Splc
c.453+2T>C
1 paper
NM_000533.5
p.D150delFs
c.449delA
1 paper
NM_000533.5
p.D150fs
c.448_449fs
5 papers
NM_000533.5
p.K151_F152Splc
c.453+4A>G
4 papers
NM_000533.5
p.P149L
c.446C>T
6 papers
NM_000533.5
p.K151_F152Splc
c.453+7A>G
1 paper
NM_000533.5
p.P149_D150delFs
c.445_448del4
4 papers
NM_000533.5
p.H148Y
c.442C>T
3 papers
NM_000533.5
p.G147G
c.441A>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."