Varaico: Literature-Extracted Genetic Variants

Gene:STAT2
Variant:p.L275L
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STAT2

NM_005419.4:p.L275L

Associated Papers

Impact of rare JAK/STAT germline mutations on vaccination-induced innate immune responses in a Tyrolian population.

Hennighausen L et al.

International Journal of Biological Sciences, 2026

Investigation of the transcriptional impact of rare germline JAK/STAT variants found in a Tyrolean alpine community.

Hennighausen L et al.

Bmc Genomics, 2025

Common origin and somatic mutation patterns of composite lymphomas and leukemias.

Berg V et al.

Leukemia, 2025

Genomic analyses of germline and somatic variation in high-grade serous ovarian cancer.

Adamson AW et al.

Journal of Ovarian Research, 2023

37460928 (PubMed )
Supplement: 13048_2023_1234_MOESM2_ESM.xlsx › Table_S10__

Human inherited complete STAT2 deficiency underlies inflammatory viral diseases.

Bucciol G et al.

The Journal of Clinical Investigation, 2023

Safety and efficacy of canakinumab treatment for undifferentiated autoinflammatory diseases: the data of a retrospective cohort two-centered study.

Alexeeva E et al.

Frontiers in Medicine, 2023

ATR represents a therapeutic vulnerability in clear cell renal cell carcinoma.

Seidel P et al.

Jci Insight, 2022

36413415 (PubMed )
Supplement: jciinsight-7-156087-s060.xlsx › SLR22

Genetic variability in COVID-19-related genes in the Brazilian population.

Secolin R et al.

Human Genome Variation, 2021

33824725 (PubMed )
Supplement: 41439_2021_146_MOESM3_ESM.xlsx › In_silico_prediction_results

Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases.

Maciąg A et al.

Bmc Genetics, 2015

25888430 (PubMed )
Supplement: 12863_2015_177_MOESM1_ESM.xls › Sheet1
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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."