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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SYNJ2BP

Variant:p.I14F

SYNJ2BP

14q24.2 (UCSC)OMIM GTEx

11 papers

Pfam Domains

PDZaa 13–97UCSCPDZ domain

Gene Aliases

HGNC Name

synaptojanin 2 binding protein

HGNC Alias Symbol

Arip2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr14:70416924 T>A

NM_018373.3

p.I14F

c.40A>T

exact variant not in gnomAD19 overlapping SVs

Surrounding Variants

chr14:70416903 A>C

NM_018373.3

p.S21A

c.61T>G

exact variant not in gnomAD19 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."