Varaico: Literature-Extracted Genetic Variants

Gene:PLP1
Variant:p.A243V

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
16 papers
NM_000533.5
p.A243V
c.728C>T
Surrounding Variants
1 paper
NM_000533.5
p.A243E
c.728C>A
2 papers
NM_000533.5
p.F244V
c.730T>G
2 papers
NM_000533.5
p.A242D
c.725C>A
31 papers
NM_000533.5
p.A242V
c.725C>T
1 paper
NM_000533.5
p.A242P
c.724G>C
1 paper
NM_000533.5
p.G246insFs
c.736dupG
1 paper
NM_000533.5
p.V245V
c.735G>C
1 paper
NM_000533.5
p.G246R
c.736G>A
5 papers
NM_000533.5
p.G246W
c.736G>T
4 papers
NM_000533.5
p.F240L
c.720T>A
4 papers
NM_000533.5
p.F240L
c.720T>G
2 papers
NM_000533.5
p.G246E
c.737G>A
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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."