Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.G137_V150del0

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.G137_V150del0
c.410_448del39
Surrounding Variants
1 paper
NM_000530.8
p.V150Splc
c.448+2T>G
2 papers
NM_000530.8
p.V150Splc
c.448+2T>A
1 paper
NM_000530.8
p.V150Splc
c.448+1G>A
1 paper
NM_000530.8
p.V150L
c.448G>T
1 paper
NM_000530.8
p.E148Q
c.442G>C
1 paper
NM_000530.8
p.F147L
c.441T>G
1 paper
NM_000530.8
p.F147L
c.441T>A
1 paper
NM_000530.8
p.F147C
c.440T>G
2 papers
NM_000530.8
p.F147S
c.440T>C
1 paper
NM_000530.8
p.F147L
c.439T>C
1 paper
NM_000530.8
p.Y145_V146delFs
c.434_437del4
2 papers
NM_000530.8
p.V146G
c.437T>G
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