Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.W101R

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.W101R
c.301T>A
Surrounding Variants
1 paper
NM_000530.8
p.W101G
c.301T>G
2 papers
NM_000530.8
p.W101R
c.301T>C
9 papers
NM_000530.8
p.W101*
c.302G>A
2 papers
NM_000530.8
p.W101C
c.303G>T
2 papers
NM_000530.8
p.W101C
c.303G>C
9 papers
NM_000530.8
p.W101*
c.303G>A
4 papers
NM_000530.8
p.Q100*
c.298C>T
1 paper
NM_000530.8
p.V102fs
c.304_305fs
1 paper
NM_000530.8
p.W101_V102ins0
c.302_304dupGGG
1 paper
NM_000530.8
p.V102G
c.305T>G
1 paper
NM_000530.8
p.V102E
c.305T>A
10 papers
NM_000530.8
p.I99T
c.296T>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."