Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.S210*

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.S210*
c.629C>A
Surrounding Variants
1 paper
NM_000530.8
p.A209_S210delFs
c.626_630del5
1 paper
NM_000530.8
p.K211N
c.633G>T
1 paper
NM_000530.8
p.K211N
c.633G>C
1 paper
NM_000530.8
p.A209fs
c.625_626fs
1 paper
NM_000530.8
p.K211delFs
c.632delT
1 paper
NM_000530.8
p.K207_D208insFs
c.620_623dup4
1 paper
NM_000530.8
p.R212H
c.635G>A
1 paper
NM_000530.8
p.P205_D208delFs
c.613_622del10
1 paper
NM_000530.8
p.D208Y
c.622G>T
1 paper
NM_000530.8
p.D208H
c.622G>C
1 paper
NM_000530.8
p.D208N
c.622G>A
2 papers
NM_000530.8
p.G213R
c.637G>C
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