Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.E37*

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.E37*
c.109G>T
Surrounding Variants
2 papers
NM_000530.8
p.E37K
c.109G>A
1 paper
NM_000530.8
p.R36R
c.108G>A
1 paper
NM_000530.8
p.E37V
c.110A>T
1 paper
NM_000530.8
p.V38L
c.112G>C
8 papers
NM_000530.8
p.R36W
c.106A>T
3 papers
NM_000530.8
p.R36G
c.106A>G
1 paper
NM_000530.8
p.V38D
c.113T>A
1 paper
NM_000530.8
p.D35V
c.104A>T
13 papers
NM_000530.8
p.D35Y
c.103G>T
1 paper
NM_000530.8
p.D35insFs
c.103_104insA
8 papers
NM_000530.8
p.D35N
c.103G>A
1 paper
NM_000530.8
p.H39L
c.116A>T
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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."