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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RIMKLB

Variant:p.R16S

RIMKLB

12p13.31 (UCSC)OMIM GTEx

34 papers

Pfam Domains

RimKaa 112–303UCSCRimK-like ATP-grasp domain

Gene Aliases

HGNC Name

ribosomal modification protein rimK like family member B

HGNC Previous Symbol

FAM80B

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr12:8713912 C>A

NM_001297776.2

p.R16S

c.46C>A

exact variant not in gnomAD7 overlapping SVs

Surrounding Variants

chr12:8713954 T>G

NM_001297776.2

p.L30V

c.88T>G

exact variant not in gnomAD7 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."