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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CT45A9

CT45A9

Xq26.3 (UCSC)GTEx

4 papers

Pfam Domains

INT_SG_DDX_CT_Caa 121–183UCSCINTS6/SAGE1/DDX26B/CT45 C-terminus

INT_SG_DDX_CT_Caa 121–183UCSCINTS6/SAGE1/DDX26B/CT45 C-terminus

INT_SG_DDX_CT_Caa 121–183UCSCINTS6/SAGE1/DDX26B/CT45 C-terminus

Gene Aliases

HGNC Name

cancer/testis antigen family 45 member A9

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

chrX:135868028 G>A

NM_001291540.2

p.P12S

c.34C>T

Exome: 0.3% (AC=1707, hom=0)Genome: 0.3% (AC=265, hom=0)37 overlapping SVs

chrX:135867898 T>G

NM_001291540.2

p.E55A

c.164A>C

Exome: 15.4% (AC=53847, hom=5)Genome: 30.4% (AC=14869, hom=0)37 overlapping SVs

chrX:135867536 C>G

NM_001291540.2

p.K57Splc

c.169+357G>C

Exome: n/aGenome: 69.3% (AC=50371, hom=10202)37 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."