Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.S44F

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
33 papers
NM_000530.8
p.S44F
c.131C>T
Surrounding Variants
1 paper
NM_000530.8
p.S44fs
c.130_131fs
1 paper
NM_000530.8
p.V38_S44delFs
c.112_131del20
1 paper
NM_000530.8
p.R45W
c.133C>T
1 paper
NM_000530.8
p.R45Q
c.134G>A
2 papers
NM_000530.8
p.V42del1
c.124_125delCAC
1 paper
NM_000530.8
p.R45_V46insFs
c.135_136insC
1 paper
NM_000530.8
p.R45R
c.135G>A
1 paper
NM_000530.8
p.G43S
c.127G>A
2 papers
NM_000530.8
p.V42V
c.126G>A
1 paper
NM_000530.8
p.V46M
c.136G>A
1 paper
NM_000530.8
p.A41_V42del1
c.123_125delACA
2 papers
NM_000530.8
p.V46delFs
c.136delC
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