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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CHCHD6

Variant:p.R29_L30Splc

CHCHD6

3q21.3 (UCSC)OMIM GTEx

34 papers

Pfam Domains

MIC19_MIC25aa 31–188UCSCMICOS complex subunit MIC19/MIC25

Gene Aliases

HGNC Name

coiled-coil-helix-coiled-coil-helix domain containing 6

HGNC Alias Symbols

MGC13016; PPP1R23; CHCM1; Mic25; MICOS25

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr3:126704425 C>A

NM_032343.3

p.R29_L30Splc

c.87+26C>A

Exome: 0.0% (AC=4, hom=0)Genome: 0.0% (AC=9, hom=0)70 overlapping SVs

Surrounding Variants

chr3:126704325 GAG>N

NM_032343.3

p.E5fs

c.13_14fs

exact variant not in gnomAD70 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."