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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRRT1B

Variant:p.M171T

PRRT1B

9q34.13 (UCSC)GTEx

2 papers

Pfam Domains

CD225aa 185–252UCSCInterferon-induced transmembrane protein

Gene Aliases

HGNC Name

proline rich transmembrane protein 1B

HGNC Alias Symbols

IFITMD8; DSPD2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr9:131556083 T>C

NM_001395643.1

p.M171T

c.512T>C

exact variant not in gnomAD6 overlapping SVs

Surrounding Variants

chr9:131554874 G>A

NM_001395643.1

p.A115T

c.343G>A

Exome: 0.0% (AC=7, hom=0)Genome: 0.0% (AC=1, hom=0)6 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."