Varaico: Literature-Extracted Genetic Variants

Gene:MBP
Variant:p.L10*

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
2 papers
NM_001025101.2
p.L10*
c.29T>A
Surrounding Variants
1 paper
NM_001025101.2
p.L10S
c.29T>C
1 paper
NM_001025101.2
p.L10I
c.28T>A
1 paper
NM_001025101.2
p.L10F
c.30A>T
1 paper
NM_001025101.2
p.L10F
c.30A>C
1 paper
NM_001025101.2
p.N11K
c.33T>A
1 paper
NM_001025101.2
p.A12P
c.34G>C
1 paper
NM_001025101.2
p.A12T
c.34G>A
1 paper
NM_001025101.2
p.A12G
c.35C>G
1 paper
NM_001025101.2
p.R8R
c.22C>A
2 papers
NM_001025101.2
p.K7K
c.21A>G
1 paper
NM_001025101.2
p.K7R
c.20A>G
1 paper
NM_001025101.2
p.E13E
c.39G>A
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