Varaico: Literature-Extracted Genetic Variants

Gene:PLP1
Variant:p.F233L

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.F233L
c.699C>G
Surrounding Variants
1 paper
NM_000533.5
p.F233L
c.699C>A
2 papers
NM_000533.5
p.F233F
c.699C>T
4 papers
NM_000533.5
p.Q234*
c.700C>T
2 papers
NM_000533.5
p.F233S
c.698T>C
4 papers
NM_000533.5
p.Q234P
c.701A>C
1 paper
NM_000533.5
p.F233L
c.697T>C
2 papers
NM_000533.5
p.E232_F233Splc
c.697-1G>A
1 paper
NM_000533.5
p.F233delFs
c.697_698delTT
2 papers
NM_000533.5
p.F233del1
c.697_699delTTC
1 paper
NM_000533.5
p.F233_T236del4
c.697_707del12
1 paper
NM_000533.5
p.M235delFs
c.705delG
1 paper
NM_000533.5
p.M235I
c.705G>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."