Varaico: Literature-Extracted Genetic Variants

Gene:PLP1
Variant:p.Q121fs

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.Q121fs
c.361_362fs
Surrounding Variants
1 paper
NM_000533.5
p.K122_G123delFs
c.364_368del5
2 papers
NM_000533.5
p.G120G
c.360C>A
1 paper
NM_000533.5
p.G120A
c.359G>C
1 paper
NM_000533.5
p.G120insFs
c.360dupC
2 papers
NM_000533.5
p.R124_G125delFs
c.370_374del5
1 paper
NM_000533.5
p.G120fs
c.358_359fs
3 papers
NM_000533.5
p.G120fs
c.358_359fs
1 paper
NM_000533.5
p.K122R
c.365A>G
1 paper
NM_000533.5
p.R124_G125delFs
c.370_373del4
1 paper
NM_000533.5
p.G123R
c.367G>A
1 paper
NM_000533.5
p.G123R
c.367G>C
2 papers
NM_000533.5
p.G119insFs
c.355dupG
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