Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.G85R

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.G85R
c.253G>A
Surrounding Variants
2 papers
NM_000530.8
p.G85R
c.253G>C
2 papers
NM_000530.8
p.G85A
c.254G>C
1 paper
NM_000530.8
p.G85delFs
c.253delC
3 papers
NM_000530.8
p.Q86*
c.256C>T
1 paper
NM_000530.8
p.Q86P
c.257A>C
1 paper
NM_000530.8
p.A83delFs
c.247delC
1 paper
NM_000530.8
p.P87L
c.260C>T
12 papers
NM_000530.8
p.Y82C
c.245A>G
3 papers
NM_000530.8
p.Y82S
c.245A>C
5 papers
NM_000530.8
p.Y82H
c.244T>C
2 papers
NM_000530.8
p.Y88H
c.262T>C
4 papers
NM_000530.8
p.H81Q
c.243C>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."