Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.D134H

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
3 papers
NM_000530.8
p.D134H
c.400G>C
Surrounding Variants
3 papers
NM_000530.8
p.D134N
c.400G>A
3 papers
NM_000530.8
p.D134G
c.401A>G
1 paper
NM_000530.8
p.P133P
c.399A>C
1 paper
NM_000530.8
p.D134delFs
c.400delC
2 papers
NM_000530.8
p.P133L
c.398C>T
6 papers
NM_000530.8
p.D134E
c.402C>G
1 paper
NM_000530.8
p.P133R
c.398C>G
6 papers
NM_000530.8
p.D134E
c.402C>A
1 paper
NM_000530.8
p.P133S
c.397C>T
4 papers
NM_000530.8
p.P133A
c.397C>G
2 papers
NM_000530.8
p.P133T
c.397C>A
7 papers
NM_000530.8
p.I135L
c.403A>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."