Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.D75G

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
2 papers
NM_000530.8
p.D75G
c.224A>G
Surrounding Variants
21 papers
NM_000530.8
p.D75V
c.224A>T
1 paper
NM_000530.8
p.D75delFs
c.223delC
1 paper
NM_000530.8
p.D75Y
c.223G>T
1 paper
NM_000530.8
p.R74K
c.221G>A
3 papers
NM_000530.8
p.A76V
c.227C>T
1 paper
NM_000530.8
p.R74*
c.220A>T
1 paper
NM_000530.8
p.G72delins
c.214_215delinsTT
32 papers
NM_000530.8
p.S78L
c.233C>T
6 papers
NM_000530.8
p.S78W
c.233C>G
1 paper
NM_000530.8
p.S78S
c.234G>A
1 paper
NM_000530.8
p.S78_I79Splc
c.234+1G>C
3 papers
NM_000530.8
p.S78_I79Splc
c.234+1G>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."