Varaico: Literature-Extracted Genetic Variants

Gene:GPM6B
Variant:p.W290L

GPM6B

29 papers

RefSeq Summary

This gene encodes a membrane glycoprotein that belongs to the proteolipid protein family. Proteolipid protein family members are expressed in most brain regions and are thought to be involved in cellu...

Pfam Domains

Myelin_PLPaa 23–258UCSCMyelin proteolipid protein (PLP or lipophilin)

Gene Aliases

HGNC Name

glycoprotein M6B

HGNC Alias Symbols

M6B; MGC17150; MGC54284

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001001995.3
p.W290L
c.869G>T
Surrounding Variants
1 paper
NM_001001995.3
p.A296V
c.887C>T
1 paper
NM_001001995.3
p.Q311E
c.931C>G
1 paper
NM_001001995.3
p.A272P
c.814G>C
1 paper
NM_001001995.3
p.C226Y
c.677G>A
1 paper
NM_005278.5
p.I185M
c.555C>G
1 paper
NM_001001995.3
p.Q215*
c.643C>T
1 paper
NM_001001995.3
p.Q215E
c.643C>G
1 paper
NM_001001995.3
p.V177F
c.529G>T
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