Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.I30N

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.I30N
c.89T>A
Surrounding Variants
4 papers
NM_000530.8
p.I30S
c.89T>G
9 papers
NM_000530.8
p.I30T
c.89T>C
10 papers
NM_000530.8
p.I30M
c.90C>G
1 paper
NM_000530.8
p.I30F
c.88A>T
1 paper
NM_000530.8
p.V31L
c.91G>T
1 paper
NM_000530.8
p.V31L
c.91G>C
2 papers
NM_000530.8
p.I30del1
c.88_89delGAT
1 paper
NM_000530.8
p.V31ins4
c.92_93ins12
2 papers
NM_000530.8
p.A29P
c.85G>C
5 papers
NM_000530.8
p.V32F
c.94G>T
1 paper
NM_000530.8
p.V32L
c.94G>C
2 papers
NM_000530.8
p.V32I
c.94G>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."