Varaico: Literature-Extracted Genetic Variants

Gene:MAG
Variant:p.P47del1

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.P47del1
c.139_140delCCG
Surrounding Variants
1 paper
NM_002361.4
p.E49*
c.145G>T
1 paper
NM_002361.4
p.R51W
c.151C>T
1 paper
NM_002361.4
p.C42S
c.125G>C
1 paper
NM_002361.4
p.C42S
c.124T>A
2 papers
NM_002361.4
p.C42R
c.124T>C
1 paper
NM_002361.4
p.A53T
c.157G>A
1 paper
NM_002361.4
p.V54M
c.160G>A
1 paper
NM_002361.4
p.V38V
c.114C>T
1 paper
NM_002361.4
p.E34Q
c.100G>C
1 paper
NM_002361.4
p.S31S
c.93G>A
1 paper
NM_002361.4
p.S63del1
c.187_188delAGC
1 paper
NM_002361.4
p.K67E
c.199A>G
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