Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:IQANK1

Variant:p.D415N

IQANK1

8q24.3 (UCSC)OMIM GTEx

4 papers

Pfam Domains

Ankaa 224–255UCSCAnkyrin repeat

Gene Aliases

HGNC Name

IQ motif and ankyrin repeat containing 1

HGNC Previous Symbol

FAM83H-AS1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr8:143790018 G>A

NM_001381874.1

p.D415N

c.1243G>A

Exome: 0.8% (AC=8113, hom=38)Genome: 0.5% (AC=771, hom=3)5 overlapping SVs

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."