Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.Q69_E71del0

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.Q69_E71del0
c.207_212del6
Surrounding Variants
2 papers
NM_000530.8
p.E71G
c.212A>G
10 papers
NM_000530.8
p.E71*
c.211G>T
1 paper
NM_000530.8
p.E71Q
c.211G>C
1 paper
NM_000530.8
p.E71K
c.211G>A
1 paper
NM_000530.8
p.G72delins
c.214_215delinsTT
4 papers
NM_000530.8
p.P70L
c.209C>T
1 paper
NM_000530.8
p.P70R
c.209C>G
15 papers
NM_000530.8
p.P70S
c.208C>T
1 paper
NM_000530.8
p.Q69_P70insFs
c.207_208insGT
1 paper
NM_000530.8
p.P70T
c.208C>A
1 paper
NM_000530.8
p.P70fs
c.208_209fs
1 paper
NM_000530.8
p.R74*
c.220A>T
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