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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:JOSD1

Variant:p.E58D

JOSD1

22q13.1 (UCSC)OMIM GTEx

3 papers

Pfam Domains

Josephinaa 31–188UCSCJosephin

Gene Aliases

HGNC Name

Josephin domain containing 1

HGNC Alias Symbol

KIAA0063

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr22:38699814 C>G

NM_001360236.2

p.E58D

c.174G>C

exact variant not in gnomAD6 overlapping SVs

Surrounding Variants

chr22:38699814 C>A

NM_001360236.2

p.E58D

c.174G>T

Exome: 0.0% (AC=1, hom=0)Genome: n/a6 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."