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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PHF21B

Variant:p.D38G

PHF21B

22q13.31 (UCSC)OMIM GTEx

38 papers

Pfam Domains

PHDaa 151–192UCSCPHD-finger

PHDaa 355–396UCSCPHD-finger

Gene Aliases

HGNC Name

PHD finger protein 21B

HGNC Previous Symbol

PHF4

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr22:45008552 T>C

NM_138415.5

p.D38G

c.113A>G

Exome: 0.0% (AC=0, hom=0)Genome: n/a4 overlapping SVs

Surrounding Variants

chr22:45009494 A>G

NM_138415.5

p.Q18_N19Splc

c.54+2T>C

exact variant not in gnomAD5 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."