Varaico: Literature-Extracted Genetic Variants

Gene:MBP
Variant:p.Q78H

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
1 paper
NM_001025101.2
p.Q78H
c.234G>T
Surrounding Variants
1 paper
NM_001025101.2
p.Q78H
c.234G>C
1 paper
NM_001025101.2
p.W77*
c.230G>A
1 paper
NM_001025101.2
p.A76S
c.226G>T
1 paper
NM_001025101.2
p.P82S
c.244C>T
1 paper
NM_001025101.2
p.P82T
c.244C>A
1 paper
NM_001025101.2
p.P82P
c.246A>T
2 papers
NM_001025101.2
p.K74*
c.220A>T
1 paper
NM_001025101.2
p.K74E
c.220A>G
2 papers
NM_001025101.2
p.P73P
c.219G>A
1 paper
NM_001025101.2
p.P73L
c.218C>T
1 paper
NM_001025101.2
p.P85Q
c.254C>A
1 paper
NM_001025101.2
p.G86V
c.257G>T
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