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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SMIM5

SMIM5

17q25.1 (UCSC)GTEx

4 papers

Pfam Domains

SMIM5_18_22aa 8–62UCSCSmall integral membrane protein 5/18/22

Gene Aliases

HGNC Name

small integral membrane protein 5

HGNC Previous Symbol

C17orf109

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

chr17:75640234 C>T

NM_001162995.3

p.R11R

c.33C>T

Exome: 0.0% (AC=22, hom=0)Genome: 0.0% (AC=3, hom=0)9 overlapping SVs

chr17:75640284 A>T

NM_001162995.3

p.E28V

c.83A>T

Exome: 0.0% (AC=12, hom=0)Genome: n/a9 overlapping SVs

chr17:75640319 C>T

NM_001162995.3

p.L40F

c.118C>T

exact variant not in gnomAD9 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."