Varaico: Literature-Extracted Genetic Variants

Gene:PLP1
Variant:p.A249P

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
4 papers
NM_000533.5
p.A249P
c.745G>C
Surrounding Variants
4 papers
NM_000533.5
p.A249T
c.745G>A
1 paper
NM_000533.5
p.A249G
c.746C>G
4 papers
NM_000533.5
p.A248E
c.743C>A
1 paper
NM_000533.5
p.A248V
c.743C>T
3 papers
NM_000533.5
p.A248P
c.742G>C
3 papers
NM_000533.5
p.A247D
c.740C>A
3 papers
NM_000533.5
p.A247T
c.739G>A
1 paper
NM_000533.5
p.L251P
c.752T>C
2 papers
NM_000533.5
p.G246E
c.737G>A
6 papers
NM_000533.5
p.G246A
c.737G>C
2 papers
NM_000533.5
p.V252I
c.754G>A
1 paper
NM_000533.5
p.G246R
c.736G>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."