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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ZNF385B

Variant:p.K44R

ZNF385B

2q31.2-q31.3 (UCSC)OMIM GTEx

23 papers

Pfam Domains

zf-metaa 34–58UCSCZinc-finger of C2H2 type

zf-metaa 34–58UCSCZinc-finger of C2H2 type

zf-metaa 49–73UCSCZinc-finger of C2H2 type

zf-metaa 157–181UCSCZinc-finger of C2H2 type

zf-metaa 172–196UCSCZinc-finger of C2H2 type

zf-metaa 285–309UCSCZinc-finger of C2H2 type

Gene Aliases

HGNC Name

zinc finger protein 385B

HGNC Previous Symbol

ZNF533

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr2:179769670 T>C

NM_152520.6

p.K44R

c.131A>G

Exome: 0.0% (AC=18, hom=0)Genome: 0.0% (AC=3, hom=0)133 overlapping SVs

Surrounding Variants

chr2:179769761 C>A

NM_152520.6

p.G14*

c.40G>T

exact variant not in gnomAD133 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."