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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SMTNL2

Variant:p.V436V

SMTNL2

17p13.2 (UCSC)GTEx

25 papers

Pfam Domains

CHaa 351–459UCSCCalponin homology (CH) domain

Gene Aliases

HGNC Name

smoothelin like 2

HGNC Alias Symbol

FLJ42461

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr17:4607409 G>T

NM_001114974.2

p.V436V

c.1308G>T

exact variant not in gnomAD12 overlapping SVs

Surrounding Variants

chr17:4607482 G>A

NM_001114974.2

p.E461K

c.1381G>A

Exome: 0.4% (AC=5966, hom=20)Genome: 0.3% (AC=396, hom=1)12 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."