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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PNMA8C

PNMA8C

19q13.32 (UCSC)OMIM GTEx

1 paper

Pfam Domains

PNMA_Naa 7–97UCSCPNMA N-terminal RRM-like domain

Gene Aliases

HGNC Name

PNMA family member 8C

HGNC Previous Name

paraneoplastic Ma antigen family member 8C

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

chr19:46427900 C>G

NM_001386793.1

p.G154R

c.460G>C

exact variant not in gnomAD15 overlapping SVs

chr19:46427900 C>T

NM_001386793.1

p.G154R

c.460G>A

Exome: 7.4% (AC=18226, hom=767)Genome: 9.7% (AC=14834, hom=891)15 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."