Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.Y68C

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
3 papers
NM_000530.8
p.Y68C
c.203A>G
Surrounding Variants
4 papers
NM_000530.8
p.Y68*
c.204C>G
5 papers
NM_000530.8
p.Y68*
c.204C>A
1 paper
NM_000530.8
p.Q69*
c.205C>T
1 paper
NM_000530.8
p.R67P
c.200G>C
3 papers
NM_000530.8
p.R67H
c.200G>A
1 paper
NM_000530.8
p.R67C
c.199C>T
2 papers
NM_000530.8
p.W66*
c.198G>A
15 papers
NM_000530.8
p.P70S
c.208C>T
1 paper
NM_000530.8
p.Q69_P70insFs
c.207_208insGT
1 paper
NM_000530.8
p.P70T
c.208C>A
1 paper
NM_000530.8
p.P70fs
c.208_209fs
2 papers
NM_000530.8
p.W66*
c.197G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."