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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NECAB1

Variant:p.L22P

NECAB1

8q21.3 (UCSC)OMIM GTEx

22 papers

Pfam Domains

ABMaa 251–326UCSCAntibiotic biosynthesis monooxygenase

Gene Aliases

HGNC Name

N-terminal EF-hand calcium binding protein 1

HGNC Previous Symbol

EFCBP1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr8:90791951 T>C

NM_022351.5

p.L22P

c.65T>C

Exome: 0.0% (AC=0, hom=0)Genome: n/a30 overlapping SVs

Surrounding Variants

chr8:90791950 C>G

NM_022351.5

p.L22V

c.64C>G

Exome: 0.0% (AC=31, hom=0)Genome: n/a30 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."