Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.S63del1

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
58 papers
NM_000530.8
p.S63del1
c.187_188delGGA
Surrounding Variants
1 paper
NM_000530.8
p.F64S
c.191T>C
10 papers
NM_000530.8
p.T65A
c.193A>G
3 papers
NM_000530.8
p.F64del1
c.190_191delGAA
14 papers
NM_000530.8
p.S63F
c.188C>T
11 papers
NM_000530.8
p.T65I
c.194C>T
18 papers
NM_000530.8
p.S63C
c.188C>G
8 papers
NM_000530.8
p.T65N
c.194C>A
11 papers
NM_000530.8
p.I62M
c.186C>G
1 paper
NM_000530.8
p.E56_I62ins2
c.168_185dup18
1 paper
NM_000530.8
p.I62N
c.185T>A
2 papers
NM_000530.8
p.W66*
c.197G>A
2 papers
NM_000530.8
p.W66*
c.198G>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."