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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MAGED4B

Variant:p.T461T

MAGED4B

Xp11.22 (UCSC)OMIM GTEx

3 papers

RefSeq Summary

This gene is a member of the MAGED gene family. It is expressed only in brain and ovary, and some transcript variants of this gene are specifically expressed in glioma cells. This gene is clustered wi...

Pfam Domains

MAGEaa 420–587UCSCMAGE homology domain

MAGEaa 420–587UCSCMAGE homology domain

Gene Aliases

HGNC Name

MAGE family member D4B

HGNC Previous Name

melanoma antigen family D4B

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chrX:52065819 G>A

NM_030801.5

p.T461T

c.1383C>T

exact variant not in gnomAD54 overlapping SVs

Surrounding Variants

chrX:52067517 A>G

NM_030801.5

p.V131A

c.392T>C

exact variant not in gnomAD54 overlapping SVs

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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."