Varaico: Literature-Extracted Genetic Variants

Gene:MBP
Variant:p.D123E

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.D123E
c.369C>G
Surrounding Variants
1 paper
NM_001025101.2
p.D123E
c.369C>A
1 paper
NM_001025101.2
p.S124R
c.370A>C
1 paper
NM_001025101.2
p.D123A
c.368A>C
1 paper
NM_001025101.2
p.S124T
c.371G>C
1 paper
NM_001025101.2
p.A126T
c.376G>A
1 paper
NM_001025101.2
p.T127T
c.381C>A
1 paper
NM_001025101.2
p.S128T
c.382T>A
1 paper
NM_001025101.2
p.T119A
c.355A>G
1 paper
NM_001025101.2
p.L117R
c.350T>G
1 paper
NM_001025101.2
p.L117H
c.350T>A
1 paper
NM_001025101.2
p.L131L
c.391C>T
1 paper
NM_001025101.2
p.E116K
c.346G>A
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