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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SH3GL2

Variant:p.K12I

SH3GL2

9p22.2 (UCSC)OMIM GTEx

59 papers

Pfam Domains

BARaa 6–242UCSCBAR domain

SH3_2aa 294–347UCSCVariant SH3 domain

Gene Aliases

HGNC Name

SH3 domain containing GRB2 like 2, endophilin A1

HGNC Alias Symbols

SH3P4; SH3D2A; CNSA2; EEN-B1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr9:17579277 A>T

NM_003026.5

p.K12I

c.35A>T

exact variant not in gnomAD22 overlapping SVs

Surrounding Variants

chr9:17579282 A>G

NM_003026.5

p.T14A

c.40A>G

Exome: 0.0% (AC=0, hom=0)Genome: n/a22 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."