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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATPSCKMT

Variant:p.G6S

ATPSCKMT

5p15.2 (UCSC)OMIM GTEx

24 papers

Pfam Domains

ATPSCKMT_Naa 33–64UCSCATP synthase subunit C lysine N-methyltransferase N-terminal domain

Gene Aliases

HGNC Name

ATP synthase c subunit lysine N-methyltransferase

HGNC Previous Symbol

FAM173B

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr5:10249858 C>T

NM_199133.4

p.G6S

c.16G>A

Exome: 0.0% (AC=5, hom=0)Genome: 0.0% (AC=1, hom=0)9 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."