Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.K96Q

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
4 papers
NM_000530.8
p.K96Q
c.286A>C
Surrounding Variants
14 papers
NM_000530.8
p.K96E
c.286A>G
3 papers
NM_000530.8
p.F95L
c.285C>G
3 papers
NM_000530.8
p.F95L
c.285C>A
2 papers
NM_000530.8
p.F95C
c.284T>G
1 paper
NM_000530.8
p.F95V
c.283T>G
3 papers
NM_000530.8
p.F95L
c.283T>C
1 paper
NM_000530.8
p.K96insFs
c.288dupA
2 papers
NM_000530.8
p.E97fs
c.289_290fs
7 papers
NM_000530.8
p.E97V
c.290A>T
1 paper
NM_000530.8
p.E97G
c.290A>G
1 paper
NM_000530.8
p.E97fs
c.289_290fs
1 paper
NM_000530.8
p.T94insFs
c.281_282insG
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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."