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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CCDC196

CCDC196

14q23.3 (UCSC)GTEx

5 papers

Gene Aliases

HGNC Name

coiled-coil domain containing 196

HGNC Previous Symbols

C14orf53; NCRNA00238; LINC00238

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

chr14:66491096 A>G

NM_001351576.1

p.I169V

c.505A>G

Exome: 0.3% (AC=754, hom=6)Genome: 0.4% (AC=552, hom=8)20 overlapping SVs

chr14:66492143 C>T

NM_001351576.1

p.Q222*

c.664C>T

exact variant not in gnomAD20 overlapping SVs

chr14:66492186 G>T

NM_001351576.1

p.G236V

c.707G>T

exact variant not in gnomAD20 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."