Varaico: Literature-Extracted Genetic Variants

Gene:PLP1
Variant:p.K111Q

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.K111Q
c.331A>C
Surrounding Variants
2 papers
NM_000533.5
p.G110G
c.330C>T
1 paper
NM_000533.5
p.K111_G119del9
c.331_356del27
2 papers
NM_000533.5
p.G110S
c.328G>A
3 papers
NM_000533.5
p.C109delFs
c.327delC
1 paper
NM_000533.5
p.C109R
c.325T>C
1 paper
NM_000533.5
p.G110del1
c.328_330delGGC
1 paper
NM_000533.5
p.I108M
c.324C>G
1 paper
NM_000533.5
p.I108V
c.322A>G
6 papers
NM_000533.5
p.A115E
c.344C>A
3 papers
NM_000533.5
p.T106T
c.318C>A
3 papers
NM_000533.5
p.A115V
c.344C>T
10 papers
NM_000533.5
p.T116K
c.347C>A
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."