Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.V102E

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.V102E
c.305T>A
Surrounding Variants
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.V102V
c.306A>T
15 papers
NM_000530.8
p.V102fs
c.304_305fs
1 paper
NM_000530.8
p.V102fs
c.304_305fs
4 papers
NM_000530.8
p.G103W
c.307G>T
2 papers
NM_000530.8
p.W101C
c.303G>T
1 paper
NM_000530.8
p.G103_D104insA
c.307_311ins3
2 papers
NM_000530.8
p.G103R
c.307G>C
2 papers
NM_000530.8
p.W101C
c.303G>C
9 papers
NM_000530.8
p.W101*
c.303G>A
2 papers
NM_000530.8
p.G103R
c.307G>A
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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."