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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KIAA0930

Variant:p.M1T

KIAA0930

22q13.31 (UCSC)OMIM GTEx

16 papers

Pfam Domains

DUF2045aa 28–261UCSCUncharacterized conserved protein (DUF2045)

Gene Aliases

HGNC Previous Symbol

C22orf9

HGNC Alias Symbol

bK268H5.C22.1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr22:45240702 A>G

NM_001009880.2

p.M1T

c.2T>C

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=1, hom=0)9 overlapping SVs

Surrounding Variants

chr22:45240672 C>A

NM_001009880.2

p.R11L

c.32G>T

Exome: 0.0% (AC=2, hom=0)Genome: n/a9 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."