Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.P26delFs

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.P26delFs
c.77delG
Surrounding Variants
1 paper
NM_000530.8
p.P26P
c.78G>A
2 papers
NM_000530.8
p.P26L
c.77C>T
1 paper
NM_000530.8
p.A27delFs
c.79delC
1 paper
NM_000530.8
p.A27fs
c.79_80fs
1 paper
NM_000530.8
p.Q28*
c.82C>T
1 paper
NM_000530.8
p.S25C
c.74C>G
2 papers
NM_000530.8
p.A29P
c.85G>C
2 papers
NM_000530.8
p.V23fs
c.67_68fs
1 paper
NM_000530.8
p.I30F
c.88A>T
4 papers
NM_000530.8
p.I30S
c.89T>G
9 papers
NM_000530.8
p.I30T
c.89T>C
1 paper
NM_000530.8
p.I30N
c.89T>A
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