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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SERP2

SERP2

13q14.11 (UCSC)GTEx

3 papers

Pfam Domains

RAMP4aa 2–61UCSCRibosome associated membrane protein RAMP4

Gene Aliases

HGNC Name

stress associated endoplasmic reticulum protein family member 2

HGNC Previous Symbol

C13orf21

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

chr13:44374090 G>A

NM_001010897.3

p.G22E

c.65G>A

Exome: 0.0% (AC=0, hom=0)Genome: n/a10 overlapping SVs

chr13:44379698 G>GN

NM_001010897.3

p.V48fs

c.142_143fs

exact variant not in gnomAD8 overlapping SVs

chr13:44397290 A>T

NM_001010897.3

p.Q59L

c.176A>T

exact variant not in gnomAD8 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."