Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.S111C

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
8 papers
NM_000530.8
p.S111C
c.332C>G
Surrounding Variants
3 papers
NM_000530.8
p.S111F
c.332C>T
3 papers
NM_000530.8
p.S111Y
c.332C>A
2 papers
NM_000530.8
p.S111P
c.331T>C
1 paper
NM_000530.8
p.I112V
c.334A>G
8 papers
NM_000530.8
p.I112T
c.335T>C
4 papers
NM_000530.8
p.G110D
c.329G>A
1 paper
NM_000530.8
p.G110S
c.328G>A
3 papers
NM_000530.8
p.D109E
c.327T>G
3 papers
NM_000530.8
p.D109E
c.327T>A
10 papers
NM_000530.8
p.V113F
c.337G>T
1 paper
NM_000530.8
p.V113I
c.337G>A
1 paper
NM_000530.8
p.D109G
c.326A>G
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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."