Varaico: Literature-Extracted Genetic Variants

Gene:PLP1
Variant:p.A171_V174del0

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.A171_V174del0
c.512_520del9
Surrounding Variants
6 papers
NM_000533.5
p.S170P
c.508T>C
3 papers
NM_000533.5
p.S170F
c.509C>T
1 paper
NM_000533.5
p.C169Y
c.506G>A
1 paper
NM_000533.5
p.A171P
c.511G>C
5 papers
NM_000533.5
p.C169R
c.505T>C
3 papers
NM_000533.5
p.V172A
c.515T>C
11 papers
NM_000533.5
p.P173S
c.517C>T
1 paper
NM_000533.5
p.P173R
c.518C>G
1 paper
NM_000533.5
p.P173_Y175Fs
c.518_523delinsAFs
4 papers
NM_000533.5
p.V166E
c.497T>A
4 papers
NM_000533.5
p.V166G
c.497T>G
1 paper
NM_000533.5
p.V174insFs
c.520dupG
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."