Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.S54_E56delFs

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.S54_E56delFs
c.160_167del8
Surrounding Variants
1 paper
NM_000530.8
p.E56D
c.168G>T
1 paper
NM_000530.8
p.E56D
c.168G>C
1 paper
NM_000530.8
p.E56delFs
c.168delC
1 paper
NM_000530.8
p.W57S
c.170G>C
8 papers
NM_000530.8
p.E56K
c.166G>A
2 papers
NM_000530.8
p.W57*
c.170G>A
3 papers
NM_000530.8
p.W57*
c.171G>A
6 papers
NM_000530.8
p.V58F
c.172G>T
4 papers
NM_000530.8
p.S55I
c.164G>T
6 papers
NM_000530.8
p.V58D
c.173T>A
2 papers
NM_000530.8
p.S54fs
c.160_161fs
1 paper
NM_000530.8
p.S59T
c.175T>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."