Varaico: Literature-Extracted Genetic Variants

Gene:PLP1
Variant:p.H238fs

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.H238fs
c.712_713fs
Surrounding Variants
1 paper
NM_000533.5
p.H238insFs
c.712_713ins14
2 papers
NM_000533.5
p.H238_F240del3
c.712_719del9
3 papers
NM_000533.5
p.F237S
c.710T>C
2 papers
NM_000533.5
p.L239V
c.715C>G
1 paper
NM_000533.5
p.L239L
c.715C>T
6 papers
NM_000533.5
p.F237V
c.709T>G
5 papers
NM_000533.5
p.L239P
c.716T>C
1 paper
NM_000533.5
p.T236I
c.707C>T
1 paper
NM_000533.5
p.F240insFs
c.719_720dupTT
4 papers
NM_000533.5
p.F240L
c.718T>C
1 paper
NM_000533.5
p.M235I
c.705G>A
4 papers
NM_000533.5
p.F240L
c.720T>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."