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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DENND4C

Variant:p.G6E

DENND4C

9p22.1 (UCSC)GTEx

57 papers

Pfam Domains

MABPaa 40–202UCSCMABP domain

uDENNaa 209–275UCSCuDENN domain

DENNaa 308–492UCSCDENN (AEX-3) domain

dDENNaa 599–648UCSCdDENN domain

Gene Aliases

HGNC Name

DENN domain containing 4C

HGNC Previous Symbols

C9orf55B; C9orf55

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr9:19276191 G>A

NM_001330640.2

p.G6E

c.17G>A

exact variant not in gnomAD24 overlapping SVs

Surrounding Variants

chr9:19276230 C>T

NM_001330640.2

p.T19I

c.56C>T

Exome: 0.0% (AC=148, hom=0)Genome: 0.0% (AC=22, hom=0)24 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."