Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.H81L

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
6 papers
NM_000530.8
p.H81L
c.242A>T
Surrounding Variants
14 papers
NM_000530.8
p.H81R
c.242A>G
9 papers
NM_000530.8
p.H81Y
c.241C>T
4 papers
NM_000530.8
p.H81Q
c.243C>G
2 papers
NM_000530.8
p.H81D
c.241C>G
4 papers
NM_000530.8
p.H81Q
c.243C>A
5 papers
NM_000530.8
p.Y82H
c.244T>C
12 papers
NM_000530.8
p.Y82C
c.245A>G
3 papers
NM_000530.8
p.Y82S
c.245A>C
1 paper
NM_000530.8
p.I79fs
c.235_236fs
1 paper
NM_000530.8
p.I79S
c.236T>G
1 paper
NM_000530.8
p.A83delFs
c.247delC
2 papers
NM_000530.8
p.S78_I79Splc
c.235-1G>C
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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."