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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:C18orf32

C18orf32

18q21.1 (UCSC)OMIM GTEx

2 papers

Pfam Domains

DUF4512aa 2–75UCSCDomain of unknown function (DUF4512)

Gene Aliases

HGNC Name

chromosome 18 open reading frame 32

HGNC Alias Symbol

FLJ23458

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

chr18:49483658 A>AG

NM_001035005.4

p.P30insFs

c.90dupC

Exome: 0.0% (AC=1, hom=0)Genome: n/a14 overlapping SVs

chr18:49483658 GAA>N

NM_001035005.4

p.F31fs

c.91_92fs

exact variant not in gnomAD14 overlapping SVs

chr18:49482376 G>A

NM_001035005.4

p.P67L

c.200C>T

Exome: 0.1% (AC=782, hom=4)Genome: 0.1% (AC=81, hom=0)13 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."