Varaico: Literature-Extracted Genetic Variants

Gene:MBP
Variant:p.N54K

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.N54K
c.162C>A
Surrounding Variants
1 paper
NM_001025101.2
p.N54D
c.160A>G
1 paper
NM_001025101.2
p.G56R
c.166G>A
2 papers
NM_001025101.2
p.Q53L
c.158A>T
2 papers
NM_001025101.2
p.G56A
c.167G>C
1 paper
NM_001025101.2
p.G56E
c.167G>A
2 papers
NM_001025101.2
p.S59T
c.175T>A
2 papers
NM_001025101.2
p.D50A
c.149A>C
1 paper
NM_001025101.2
p.D50N
c.148G>A
1 paper
NM_001025101.2
p.S59Y
c.176C>A
1 paper
NM_001025101.2
p.S59S
c.177T>A
1 paper
NM_001025101.2
p.Q60E
c.178C>G
1 paper
NM_001025101.2
p.A49G
c.146C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."