Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.Y33fs

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.Y33fs
c.97_98fs
Surrounding Variants
2 papers
NM_000530.8
p.Y33F
c.98A>T
1 paper
NM_000530.8
p.Y33delFs
c.97delA
5 papers
NM_000530.8
p.T34I
c.101C>T
2 papers
NM_000530.8
p.T34N
c.101C>A
13 papers
NM_000530.8
p.D35Y
c.103G>T
1 paper
NM_000530.8
p.D35insFs
c.103_104insA
8 papers
NM_000530.8
p.D35N
c.103G>A
5 papers
NM_000530.8
p.V32F
c.94G>T
1 paper
NM_000530.8
p.V32L
c.94G>C
2 papers
NM_000530.8
p.V32I
c.94G>A
1 paper
NM_000530.8
p.D35V
c.104A>T
1 paper
NM_000530.8
p.V31ins4
c.92_93ins12
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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."