Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.G200G

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
2 papers
NM_000530.8
p.G200G
c.600G>A
Surrounding Variants
1 paper
NM_000530.8
p.G200R
c.598G>A
1 paper
NM_000530.8
p.K201T
c.602A>C
1 paper
NM_000530.8
p.K199T
c.596A>C
1 paper
NM_000530.8
p.M197fs
c.589_590fs
1 paper
NM_000530.8
p.K204M
c.611A>T
1 paper
NM_000530.8
p.A196insFs
c.588dupT
1 paper
NM_000530.8
p.P205S
c.613C>T
1 paper
NM_000530.8
p.A196V
c.587C>T
4 papers
NM_000530.8
p.G206*
c.616G>T
1 paper
NM_000530.8
p.G206_K207insFs
c.618_619insT
1 paper
NM_000530.8
p.K207fs
c.619_620fs
1 paper
NM_000530.8
p.K207*
c.619A>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."