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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AKAIN1

Variant:p.A4T

AKAIN1

18p11.31 (UCSC)OMIM GTEx

9 papers

Pfam Domains

AKAP7_RIRII_bdgaa 11–53UCSCPKA-RI-RII subunit binding domain of A-kinase anchor protein

Gene Aliases

HGNC Name

A-kinase anchor inhibitor 1

HGNC Previous Symbol

C18orf42

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr18:5197044 C>T

NM_001145194.2

p.A4T

c.10G>A

exact variant not in gnomAD4 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."