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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RFLNB

RFLNB

17p13.3 (UCSC)OMIM GTEx

4 papers

Gene Aliases

HGNC Name

refilin B

HGNC Previous Symbol

FAM101B

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

chr17:445934 T>C

NM_182705.3

p.P72P

c.216A>G

Exome: 0.0% (AC=2, hom=0)Genome: n/a13 overlapping SVs

chr17:445912 C>T

NM_182705.3

p.G80S

c.238G>A

Exome: 0.0% (AC=39, hom=0)Genome: 0.0% (AC=1, hom=0)13 overlapping SVs

chr17:443303 A>G

NM_182705.3

p.V169A

c.506T>C

Exome: 0.7% (AC=9563, hom=56)Genome: 0.5% (AC=786, hom=9)13 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."