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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CIMIP7

Variant:p.S26N

CIMIP7

3p21.31 (UCSC)GTEx

11 papers

Pfam Domains

HDNRaa 3–164UCSCDomain of unknown function with conserved HDNR motif

Gene Aliases

HGNC Name

ciliary microtubule inner protein 7

HGNC Previous Symbol

C3orf84

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr3:49190089 C>T

NM_001080528.3

p.S26N

c.77G>A

Exome: 0.0% (AC=357, hom=4)Genome: 0.0% (AC=54, hom=0)60 overlapping SVs

Surrounding Variants

chr3:49190048 C>T

NM_001080528.3

p.A40T

c.118G>A

exact variant not in gnomAD60 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."