Varaico: Literature-Extracted Genetic Variants

Gene:MBP
Variant:p.S112C

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.S112C
c.335C>G
Surrounding Variants
1 paper
NM_001025101.2
p.S112A
c.334T>G
1 paper
NM_001025101.2
p.E113A
c.338A>C
1 paper
NM_001025101.2
p.E113E
c.339G>A
1 paper
NM_001025101.2
p.S114P
c.340T>C
1 paper
NM_001025101.2
p.S114C
c.341C>G
1 paper
NM_001025101.2
p.R110W
c.328A>T
1 paper
NM_001025101.2
p.D115V
c.344A>T
1 paper
NM_001025101.2
p.D115A
c.344A>C
1 paper
NM_001025101.2
p.D109N
c.325G>A
1 paper
NM_001025101.2
p.E116K
c.346G>A
1 paper
NM_001025101.2
p.K108E
c.322A>G
1 paper
NM_001025101.2
p.L117R
c.350T>G
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