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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NXPE1

Variant:p.M23V

NXPE1

11q23.2 (UCSC)GTEx

20 papers

Pfam Domains

Neurexophilinaa 77–278UCSCNeurexophilin

Neurexophilinaa 77–278UCSCNeurexophilin

NXPE4_Caa 325–547UCSCNXPE family member 4-like, C-terminal domain

Gene Aliases

HGNC Name

neurexophilin and PC-esterase domain family member 1

HGNC Previous Symbol

FAM55A

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr11:114551135 T>C

NM_001395504.1

p.M23V

c.67A>G

exact variant not in gnomAD20 overlapping SVs

Surrounding Variants

chr11:114551173 G>A

NM_001395504.1

p.T10M

c.29C>T

Exome: 0.0% (AC=5, hom=0)Genome: n/a20 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."