Varaico: Literature-Extracted Genetic Variants

Gene:MAGEC1
Variant:p.L246L

MAGEC1

198 papers

RefSeq Summary

This gene is a member of the melanoma antigen gene (MAGE) family. The proteins of this family are tumor-specific antigens that can be recognized by autologous cytolytic T lymphocytes. This protein con...

Pfam Domains

MAGEaa 915–1082UCSCMAGE homology domain

Gene Aliases

HGNC Name

MAGE family member C1

HGNC Alias Symbols

MAGE-C1; MGC39366; CT7.1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005462.5
p.L246L
c.736C>T
Surrounding Variants
3 papers
NM_005462.5
p.L246V
c.736C>G
3 papers
NM_005462.5
p.L248I
c.742C>A
1 paper
NM_005462.5
p.S241S
c.723C>G
3 papers
NM_005462.5
p.S241F
c.722C>T
1 paper
NM_005462.5
p.S241fs
c.721_722fs
1 paper
NM_005462.5
p.S241insFs
c.721dupT
2 papers
NM_005462.5
p.F252S
c.755T>C
2 papers
NM_005462.5
p.P239R
c.716C>G
3 papers
NM_005462.5
p.P239S
c.715C>T
1 paper
NM_005462.5
p.S253P
c.757T>C
1 paper
NM_005462.5
p.S238delFs
c.713_714delGC
5 papers
NM_005462.5
p.T256S
c.766A>T
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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."