Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.K138N

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
5 papers
NM_000530.8
p.K138N
c.414G>C
Surrounding Variants
5 papers
NM_000530.8
p.K138N
c.414G>T
3 papers
NM_000530.8
p.T139N
c.416C>A
2 papers
NM_000530.8
p.K138E
c.412A>G
4 papers
NM_000530.8
p.G137G
c.411C>T
2 papers
NM_000530.8
p.S140P
c.418T>C
12 papers
NM_000530.8
p.S140T
c.418T>A
4 papers
NM_000530.8
p.G137V
c.410G>T
2 papers
NM_000530.8
p.G137A
c.410G>C
7 papers
NM_000530.8
p.G137D
c.410G>A
7 papers
NM_000530.8
p.G137S
c.409G>A
1 paper
NM_000530.8
p.S140F
c.419C>T
5 papers
NM_000530.8
p.S140C
c.419C>G
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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."