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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PNMA6E

PNMA6E

Xq28 (UCSC)GTEx

1 paper

Pfam Domains

PNMA_Naa 1–55UCSCPNMA N-terminal RRM-like domain

PNMA_Naa 1–92UCSCPNMA N-terminal RRM-like domain

PNMAaa 47–207UCSCPNMA

PNMAaa 324–485UCSCPNMA

Gene Aliases

HGNC Name

PNMA family member 6E

HGNC Previous Name

paraneoplastic Ma antigen family member 6E

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

chrX:153398251 C>T

NM_001367770.1

p.G200D

c.599G>A

exact variant not in gnomAD11 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."