Varaico: Literature-Extracted Genetic Variants

Gene:PLP1
Variant:p.D203D

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
3 papers
NM_000533.5
p.D203D
c.609T>C
Surrounding Variants
2 papers
NM_000533.5
p.D203E
c.609T>A
2 papers
NM_000533.5
p.D203E
c.609T>G
5 papers
NM_000533.5
p.D203G
c.608A>G
4 papers
NM_000533.5
p.D203V
c.608A>T
3 papers
NM_000533.5
p.D203N
c.607G>A
4 papers
NM_000533.5
p.D203H
c.607G>C
1 paper
NM_000533.5
p.A202A
c.606T>C
5 papers
NM_000533.5
p.R205G
c.613A>G
1 paper
NM_000533.5
p.A202V
c.605C>T
3 papers
NM_000533.5
p.R205K
c.614G>A
1 paper
NM_000533.5
p.C201Y
c.602G>A
1 paper
NM_000533.5
p.C201S
c.602G>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."