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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPINK13

Variant:p.A62S

SPINK13

5q32 (UCSC)OMIM GTEx

3 papers

Pfam Domains

Kazal_1aa 46–93UCSCKazal-type serine protease inhibitor domain

Gene Aliases

HGNC Name

serine peptidase inhibitor Kazal type 13

HGNC Alias Symbols

SPINK5L3; LiESP6; HESPINTOR; MGC149260

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr5:148282179 G>T

NM_001040129.3

p.A62S

c.184G>T

Exome: 0.1% (AC=1779, hom=11)Genome: 0.2% (AC=287, hom=4)47 overlapping SVs

Surrounding Variants

chr5:148282209 T>C

NM_001040129.3

p.C72R

c.214T>C

Exome: 0.0% (AC=42, hom=0)Genome: 0.0% (AC=2, hom=0)47 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."