Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.W107L

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
1 paper
NM_000530.8
p.W107L
c.320G>T
Surrounding Variants
2 papers
NM_000530.8
p.R106H
c.317G>A
7 papers
NM_000530.8
p.R106C
c.316C>T
8 papers
NM_000530.8
p.D109N
c.325G>A
2 papers
NM_000530.8
p.P105L
c.314C>T
1 paper
NM_000530.8
p.D109G
c.326A>G
1 paper
NM_000530.8
p.D109A
c.326A>C
3 papers
NM_000530.8
p.D109E
c.327T>G
3 papers
NM_000530.8
p.D109E
c.327T>A
2 papers
NM_000530.8
p.P105S
c.313C>T
9 papers
NM_000530.8
p.P105T
c.313C>A
1 paper
NM_000530.8
p.G110S
c.328G>A
1 paper
NM_000530.8
p.D104fs
c.310_311fs
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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."