Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.I89_D90insFs

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.I89_D90insFs
c.266_270dup5
Surrounding Variants
1 paper
NM_000530.8
p.E91fs
c.271_272fs
11 papers
NM_000530.8
p.D90E
c.270C>G
12 papers
NM_000530.8
p.D90E
c.270C>A
3 papers
NM_000530.8
p.D90H
c.268G>C
3 papers
NM_000530.8
p.V92M
c.274G>A
1 paper
NM_000530.8
p.I89S
c.266T>G
3 papers
NM_000530.8
p.I89N
c.266T>A
1 paper
NM_000530.8
p.Q86_I89delFs
c.258_265del8
5 papers
NM_000530.8
p.V92V
c.276G>A
4 papers
NM_000530.8
p.G93R
c.277G>C
4 papers
NM_000530.8
p.G93R
c.277G>A
1 paper
NM_000530.8
p.Y88ins2
c.263_264ins6
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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."