Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.S120insFs

MPZ

745 papers

RefSeq Summary

This gene is specifically expressed in Schwann cells of the peripheral nervous system and encodes a type I transmembrane glycoprotein that is a major structural protein of the peripheral myelin sheath...

Pfam Domains

V-setaa 33–147UCSCImmunoglobulin V-set domain
Myelin-PO_Caa 184–248UCSCMyelin-PO cytoplasmic C-term p65 binding region

Gene Aliases

HGNC Name

myelin protein zero

HGNC Previous Symbols

CMT1; CMT1B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000530.8
p.S120insFs
c.360dupT
Surrounding Variants
1 paper
NM_000530.8
p.D121H
c.361G>C
6 papers
NM_000530.8
p.D121N
c.361G>A
1 paper
NM_000530.8
p.S120del1
c.358_360delACT
3 papers
NM_000530.8
p.D121G
c.362A>G
1 paper
NM_000530.8
p.N122D
c.364A>G
4 papers
NM_000530.8
p.N122S
c.365A>G
20 papers
NM_000530.8
p.Y119C
c.356A>G
1 paper
NM_000530.8
p.Y119ins2
c.355_356ins6
10 papers
NM_000530.8
p.G123C
c.367G>T
1 paper
NM_000530.8
p.G123R
c.367G>C
12 papers
NM_000530.8
p.G123S
c.367G>A
3 papers
NM_000530.8
p.G123V
c.368G>T
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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."