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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CNFN

CNFN

19q13.2 (UCSC)OMIM GTEx

4 papers

Pfam Domains

PLAC8aa 24–107UCSCPLAC8 family

Gene Aliases

HGNC Name

cornifelin

HGNC Alias Symbol

PLAC8L2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

chr19:42388950 C>A

NM_032488.4

p.D30Y

c.88G>T

Exome: 0.0% (AC=97, hom=0)Genome: 0.1% (AC=77, hom=0)11 overlapping SVs

chr19:42387359 C>T

NM_032488.4

p.R77Q

c.230G>A

Exome: 0.0% (AC=3, hom=0)Genome: n/a11 overlapping SVs

chr19:42387232 C>T

NM_032488.4

p.G87E

c.260G>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."