Varaico: Literature-Extracted Genetic Variants

Gene:PLP1
Variant:p.V161I

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.V161I
c.481G>A
Surrounding Variants
1 paper
NM_000533.5
p.V161L
c.481G>C
3 papers
NM_000533.5
p.V161insFs
c.481_482dupGT
1 paper
NM_000533.5
p.T160I
c.479C>T
1 paper
NM_000533.5
p.V162fs
c.484_485fs
4 papers
NM_000533.5
p.V162E
c.485T>A
4 papers
NM_000533.5
p.L159P
c.476T>C
4 papers
NM_000533.5
p.W163R
c.487T>A
4 papers
NM_000533.5
p.W163R
c.487T>C
1 paper
NM_000533.5
p.W163*
c.488G>A
1 paper
NM_000533.5
p.W163S
c.488G>C
8 papers
NM_000533.5
p.W163L
c.488G>T
1 paper
NM_000533.5
p.A158V
c.473C>T
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."