Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.Y145S

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
17 papers
NM_000530.8
p.Y145S
c.434A>C
Surrounding Variants
1 paper
NM_000530.8
p.Y145C
c.434A>G
1 paper
NM_000530.8
p.Y145insFs
c.433dupT
2 papers
NM_000530.8
p.Y145fs
c.433_434fs
6 papers
NM_000530.8
p.Y145*
c.435T>G
6 papers
NM_000530.8
p.Y145*
c.435T>A
1 paper
NM_000530.8
p.Y145fs
c.433_434fs
4 papers
NM_000530.8
p.V146F
c.436G>T
2 papers
NM_000530.8
p.L144fs
c.430_431fs
2 papers
NM_000530.8
p.L144delFs
c.431delA
2 papers
NM_000530.8
p.V146G
c.437T>G
3 papers
NM_000530.8
p.V146A
c.437T>C
1 paper
NM_000530.8
p.L144fs
c.430_431fs
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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."