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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CIMIP3

Variant:p.*113Y

CIMIP3

6p21.1 (UCSC)GTEx

1 paper

Pfam Domains

CIMIP3aa 37–112UCSCCiliary microtubule inner protein 3

Gene Aliases

HGNC Name

ciliary microtubule inner protein 3

HGNC Previous Symbol

GUCA1ANB

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr6:42163249 G>T

NM_001384994.1

p.*113Y

c.339G>T

Exome: 0.0% (AC=0, hom=0)Genome: n/a61 overlapping SVs

Surrounding Variants

chr6:42163249 G>C

NM_001384994.1

p.*113Y

c.339G>C

exact variant not in gnomAD61 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."