Varaico: Literature-Extracted Genetic Variants

Gene:MBP
Variant:p.R213Q

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.R213Q
c.638G>A
Surrounding Variants
1 paper
NM_001025101.2
p.T214insFs
c.640_641insT
1 paper
NM_001025101.2
p.Q215*
c.643C>T
1 paper
NM_001025101.2
p.Q208Q
c.624G>A
2 papers
NM_001025101.2
p.P207S
c.619C>T
1 paper
NM_001025101.2
p.L206P
c.617T>C
1 paper
NM_001025101.2
p.P219_V220del1
c.656_658delCGG
1 paper
NM_001025101.2
p.L206L
c.616C>T
1 paper
NM_001025101.2
p.S205A
c.613T>G
1 paper
NM_001025101.2
p.V220del1
c.658_660delTAC
1 paper
NM_001025101.2
p.G204G
c.612C>A
1 paper
NM_001025101.2
p.G204R
c.610G>C
3 papers
NM_001025101.2
p.G204S
c.610G>A
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