Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.R212H

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.R212H
c.635G>A
Surrounding Variants
1 paper
NM_000530.8
p.K211N
c.633G>T
2 papers
NM_000530.8
p.G213R
c.637G>C
1 paper
NM_000530.8
p.K211N
c.633G>C
2 papers
NM_000530.8
p.G213R
c.637G>A
1 paper
NM_000530.8
p.K211delFs
c.632delT
1 paper
NM_000530.8
p.A209_S210delFs
c.626_630del5
6 papers
NM_000530.8
p.R214Q
c.641G>A
1 paper
NM_000530.8
p.R214delFs
c.640delG
1 paper
NM_000530.8
p.S210*
c.629C>A
1 paper
NM_000530.8
p.R214fs
c.640_641fs
19 papers
NM_000530.8
p.Q215*
c.643C>T
1 paper
NM_000530.8
p.A209fs
c.625_626fs
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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."