Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.H39L

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.H39L
c.116A>T
Surrounding Variants
14 papers
NM_000530.8
p.H39P
c.116A>C
1 paper
NM_000530.8
p.V38D
c.113T>A
1 paper
NM_000530.8
p.G40D
c.119G>A
1 paper
NM_000530.8
p.V38L
c.112G>C
1 paper
NM_000530.8
p.E37V
c.110A>T
1 paper
NM_000530.8
p.E37*
c.109G>T
2 papers
NM_000530.8
p.E37K
c.109G>A
1 paper
NM_000530.8
p.R36R
c.108G>A
2 papers
NM_000530.8
p.V42V
c.126G>A
1 paper
NM_000530.8
p.A41_V42del1
c.123_125delACA
8 papers
NM_000530.8
p.R36W
c.106A>T
3 papers
NM_000530.8
p.R36G
c.106A>G
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."