Varaico: Literature-Extracted Genetic Variants

Gene:GPM6B
Variant:p.S115G

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.S115G
c.343A>G
Surrounding Variants
1 paper
NM_001001995.3
p.V103M
c.307G>A
1 paper
NM_001001995.3
p.G87A
c.260G>C
1 paper
NM_001001995.3
p.G61Splc
c.182-2A>G
1 paper
NM_001001995.3
p.G169G
c.507C>T
1 paper
NM_001001995.3
p.R170*
c.508C>T
1 paper
NM_001001995.3
p.V177F
c.529G>T
1 paper
NM_001001995.3
p.Q215*
c.643C>T
1 paper
NM_001001995.3
p.Q215E
c.643C>G
1 paper
NM_005278.5
p.I185M
c.555C>G
1 paper
NM_001001995.3
p.C226Y
c.677G>A
1 paper
NM_001001995.3
p.A272P
c.814G>C
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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."