Varaico: Literature-Extracted Genetic Variants

Gene:MBP
Variant:p.S96A

MBP

797 papers

RefSeq Summary

The protein encoded by the classic MBP gene is a major constituent of the myelin sheath of oligodendrocytes and Schwann cells in the nervous system. However, MBP-related transcripts are also present i...

Pfam Domains

Myelin_MBPaa 149–304UCSCMyelin basic protein

Gene Aliases

HGNC Name

myelin basic protein

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001025101.2
p.S96A
c.286T>G
Surrounding Variants
1 paper
NM_001025101.2
p.S96P
c.286T>C
1 paper
NM_001025101.2
p.R97*
c.289C>T
1 paper
NM_001025101.2
p.S96_R97del2
c.286_290del6
1 paper
NM_001025101.2
p.L94V
c.280C>G
1 paper
NM_001025101.2
p.R93H
c.278G>A
1 paper
NM_001025101.2
p.A99V
c.296C>T
1 paper
NM_001025101.2
p.G101E
c.302G>A
1 paper
NM_001025101.2
p.R102K
c.305G>A
1 paper
NM_001025101.2
p.R102R
c.306G>A
1 paper
NM_001025101.2
p.P89T
c.265C>A
1 paper
NM_001025101.2
p.R88fs
c.262_263fs
1 paper
NM_001025101.2
p.E103A
c.308A>C
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