Varaico: Literature-Extracted Genetic Variants

Gene:MBP
Variant:p.K14_A15insFs

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.K14_A15insFs
c.42_43insG
Surrounding Variants
1 paper
NM_001025101.2
p.A15V
c.44C>T
1 paper
NM_001025101.2
p.A15P
c.43G>C
2 papers
NM_001025101.2
p.A15T
c.43G>A
1 paper
NM_001025101.2
p.S16N
c.47G>A
1 paper
NM_001025101.2
p.K14R
c.41A>G
1 paper
NM_001025101.2
p.K14*
c.40A>T
1 paper
NM_001025101.2
p.K14E
c.40A>G
1 paper
NM_001025101.2
p.K14Q
c.40A>C
1 paper
NM_001025101.2
p.E13E
c.39G>A
4 papers
NM_001025101.2
p.T17A
c.49A>G
1 paper
NM_001025101.2
p.T17P
c.49A>C
1 paper
NM_001025101.2
p.T17K
c.50C>A
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