Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.V129I

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.V129I
c.385G>A
Surrounding Variants
1 paper
NM_000530.8
p.D128E
c.384C>G
1 paper
NM_000530.8
p.D128E
c.384C>A
3 papers
NM_000530.8
p.D128G
c.383A>G
3 papers
NM_000530.8
p.G123_D128del0
c.368_382del15
1 paper
NM_000530.8
p.D128Y
c.382G>T
6 papers
NM_000530.8
p.D128N
c.382G>A
1 paper
NM_000530.8
p.C127W
c.381T>G
18 papers
NM_000530.8
p.K130R
c.389A>G
1 paper
NM_000530.8
p.C127S
c.380G>C
7 papers
NM_000530.8
p.C127Y
c.380G>A
2 papers
NM_000530.8
p.C127R
c.379T>C
1 paper
NM_000530.8
p.C127S
c.379T>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."