Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.S54P

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.S54P
c.160T>C
Surrounding Variants
1 paper
NM_000530.8
p.S54F
c.161C>T
2 papers
NM_000530.8
p.S54C
c.161C>G
1 paper
NM_000530.8
p.S54Y
c.161C>A
1 paper
NM_000530.8
p.W53*
c.158G>A
2 papers
NM_000530.8
p.S54fs
c.160_161fs
4 papers
NM_000530.8
p.S55I
c.164G>T
4 papers
NM_000530.8
p.F52L
c.156C>G
4 papers
NM_000530.8
p.F52L
c.156C>A
2 papers
NM_000530.8
p.F52V
c.154T>G
4 papers
NM_000530.8
p.F52L
c.154T>C
8 papers
NM_000530.8
p.E56K
c.166G>A
1 paper
NM_000530.8
p.E56D
c.168G>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."