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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SIRPB2

Variant:p.C2Y

SIRPB2

20p13 (UCSC)OMIM GTEx

18 papers

Pfam Domains

V-setaa 43–150UCSCImmunoglobulin V-set domain

V-setaa 43–150UCSCImmunoglobulin V-set domain

V-setaa 162–264UCSCImmunoglobulin V-set domain

Gene Aliases

HGNC Name

signal regulatory protein beta 2

HGNC Previous Symbols

PTPN1L; PTPNS1L3

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr20:1491355 C>T

NM_001122962.2

p.C2Y

c.5G>A

Exome: 0.0% (AC=1, hom=0)Genome: n/a2 overlapping SVs

Surrounding Variants

chr20:1491344 A>C

NM_001122962.2

p.S6A

c.16T>G

exact variant not in gnomAD2 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."