Varaico: Literature-Extracted Genetic Variants

Gene:MAG
Variant:p.L320_S321delFs

MAG

126 papers

RefSeq Summary

The protein encoded by this gene is a type I membrane protein and member of the immunoglobulin superfamily. It is thought to be involved in the process of myelination. It is a lectin that binds to sia...

Pfam Domains

C2-set_2aa 141–226UCSCCD80-like C2-set immunoglobulin domain
Ig_3aa 239–309UCSCImmunoglobulin domain
Ig_3aa 328–396UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

myelin associated glycoprotein

HGNC Previous Symbol

GMA

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002361.4
p.L320_S321delFs
c.960_961delCA
Surrounding Variants
1 paper
NM_002361.4
p.D300V
c.899A>T
1 paper
NM_002361.4
p.T278I
c.833C>T
1 paper
NM_002361.4
p.N266delFs
c.798delC
1 paper
NM_002361.4
p.N266fs
c.796_797fs
1 paper
NM_002361.4
p.S265R
c.795C>A
1 paper
NM_002361.4
p.E244delFs
c.730delG
1 paper
NM_002361.4
p.S233R
c.699C>A
1 paper
NM_002361.4
p.S233R
c.699C>G
1 paper
NM_002361.4
p.S233R
c.697A>C
2 papers
NM_002361.4
p.Y231*
c.693C>A
1 paper
NM_002361.4
p.Y231*
c.693C>G
1 paper
NM_002361.4
p.H213Q
c.639C>G
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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."