Varaico: Literature-Extracted Genetic Variants

Gene:PLP1
Variant:p.R205K

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.R205K
c.614G>A
Surrounding Variants
5 papers
NM_000533.5
p.R205G
c.613A>G
3 papers
NM_000533.5
p.M206K
c.617T>A
2 papers
NM_000533.5
p.M206T
c.617T>C
1 paper
NM_000533.5
p.M206I
c.618G>A
1 paper
NM_000533.5
p.M206I
c.618G>C
1 paper
NM_000533.5
p.M206I
c.618G>T
2 papers
NM_000533.5
p.D203E
c.609T>A
11 papers
NM_000533.5
p.Y207H
c.619T>C
3 papers
NM_000533.5
p.D203D
c.609T>C
2 papers
NM_000533.5
p.D203E
c.609T>G
5 papers
NM_000533.5
p.D203G
c.608A>G
2 papers
NM_000533.5
p.Y207C
c.620A>G
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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."