Varaico: Literature-Extracted Genetic Variants

Gene:PLP1
Variant:p.Q185_A188delFs

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.Q185_A188delFs
c.554_564del11
Surrounding Variants
4 papers
NM_000533.5
p.T183N
c.548C>A
3 papers
NM_000533.5
p.C184S
c.550T>A
5 papers
NM_000533.5
p.C184R
c.550T>C
3 papers
NM_000533.5
p.C184S
c.551G>C
5 papers
NM_000533.5
p.C184W
c.552C>G
1 paper
NM_000533.5
p.T182T
c.546C>T
5 papers
NM_000533.5
p.T182N
c.545C>A
1 paper
NM_000533.5
p.Q185fs
c.553_554fs
5 papers
NM_000533.5
p.T182P
c.544A>C
3 papers
NM_000533.5
p.W181C
c.543G>C
3 papers
NM_000533.5
p.W181C
c.543G>T
2 papers
NM_000533.5
p.T180P
c.538A>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."