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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCRN1

Variant:p.R16C

SCRN1

7p14.3 (UCSC)OMIM GTEx

26 papers

RefSeq Summary

This gene likely encodes a member of the secernin family of proteins. A similar protein in rat functions in regulation of exocytosis in mast cells. Alternatively spliced transcript variants have been ...

Pfam Domains

Peptidase_C69aa 38–234UCSCPeptidase family C69

Gene Aliases

HGNC Name

secernin 1

HGNC Alias Symbol

KIAA0193

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr7:29969022 G>A

NM_014766.5

p.R16C

c.46C>T

Exome: 0.0% (AC=244, hom=0)Genome: 0.0% (AC=35, hom=0)86 overlapping SVs

Surrounding Variants

chr7:29968956 C>A

NM_014766.5

p.V38F

c.112G>T

exact variant not in gnomAD86 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."