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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPRR5

SPRR5

1q21.3 (UCSC)OMIM GTEx

2 papers

Gene Aliases

HGNC Name

small proline rich protein 5

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

chr1:152948618 C>T

NM_001395435.1

p.R22C

c.64C>T

Exome: 0.5% (AC=93, hom=0)Genome: 0.0% (AC=19, hom=0)240 overlapping SVs

chr1:152948654 C>CNNNNNNNNNNNNNNNNNNNNN

NM_001395435.1

p.Q34_Q35ins7

c.100_104ins21

exact variant not in gnomAD241 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."