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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CT45A1

CT45A1

Xq26.3 (UCSC)OMIM GTEx

8 papers

Pfam Domains

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

Gene Aliases

HGNC Name

cancer/testis antigen family 45 member A1

HGNC Alias Symbols

CT45-1; CT45.1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

chrX:135719104 C>A

NM_001017417.3

p.A55E

c.164C>A

Exome: 0.0% (AC=8, hom=0)Genome: 0.0% (AC=15, hom=0)42 overlapping SVs

chrX:135721063 T>G

NM_001017417.3

p.L69V

c.205T>G

Exome: 0.0% (AC=0, hom=0)Genome: n/a41 overlapping SVs

chrX:135721204 C>T

NM_001017417.3

p.P116S

c.346C>T

exact variant not in gnomAD41 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."