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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SMIM21

Variant:p.R90C

SMIM21

18q23 (UCSC)GTEx

6 papers

Gene Aliases

HGNC Name

small integral membrane protein 21

HGNC Previous Symbol

C18orf62

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr18:75410902 G>A

NM_001037331.3

p.R90C

c.268C>T

Exome: 0.0% (AC=30, hom=0)Genome: 0.0% (AC=6, hom=0)8 overlapping SVs

Surrounding Variants

chr18:75418913 C>G

NM_001037331.3

p.E45Q

c.133G>C

exact variant not in gnomAD8 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."