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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MAGEA9B

MAGEA9B

Xq28 (UCSC)OMIM GTEx

2 papers

RefSeq Summary

MAGEA9B is a duplication of the MAGEA9 gene (MIM 300342) on chromosome Xq28. The 2 copies are separated by about 194 kb (Hartz, 2009).[supplied by OMIM, Mar 2009].

Gene Aliases

HGNC Name

MAGE family member A9B

HGNC Previous Name

melanoma antigen family A9B

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

chrX:149582992 C>T

NM_001080790.1

p.G63E

c.188G>A

Exome: 0.0% (AC=2, hom=0)Genome: n/a22 overlapping SVs

chrX:149582819 G>A

NM_001080790.1

p.H121Y

c.361C>T

exact variant not in gnomAD22 overlapping SVs

chrX:149582730 GA>G

NM_001080790.1

p.F150delFs

c.449delA

exact variant not in gnomAD22 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."