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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SMIM14

Variant:p.H15R

SMIM14

4p14 (UCSC)GTEx

9 papers

Pfam Domains

DUF2615aa 2–98UCSCProtein of unknown function (DUF2615)

Gene Aliases

HGNC Name

small integral membrane protein 14

HGNC Previous Symbol

C4orf34

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr4:39605102 T>C

NM_174921.3

p.H15R

c.44A>G

Exome: 0.0% (AC=2, hom=0)Genome: n/a57 overlapping SVs

Surrounding Variants

chr4:39605136 C>T

NM_174921.3

p.G4S

c.10G>A

Exome: 0.0% (AC=1, hom=0)Genome: n/a57 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."