Varaico: Literature-Extracted Genetic Variants

Gene:MBP
Variant:p.R188L

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.R188L
c.563G>T
Surrounding Variants
1 paper
NM_001025101.2
p.G189S
c.565G>A
1 paper
NM_001025101.2
p.G189V
c.566G>T
1 paper
NM_001025101.2
p.G189D
c.566G>A
1 paper
NM_001025101.2
p.S190A
c.568T>G
1 paper
NM_001025101.2
p.K192T
c.575A>C
1 paper
NM_001025101.2
p.G184R
c.550G>C
1 paper
NM_001025101.2
p.R183S
c.549G>T
1 paper
NM_001025101.2
p.R183S
c.549G>C
1 paper
NM_001025101.2
p.K192_D193Splc
c.576+2T>C
1 paper
NM_001025101.2
p.G181S
c.541G>A
1 paper
NM_001025081.2
p.F46delFs
c.138delA
1 paper
NM_001025081.2
p.F46fs
c.136_137fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."