Varaico: Literature-Extracted Genetic Variants

Gene:MLKL
Variant:p.S132P
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MLKL

NM_152649.4:p.S132P

Associated Papers

A common human MLKL polymorphism confers resistance to negative regulation by phosphorylation.

Garnish SE et al.

Nature Communications, 2023

APOLD1 loss causes endothelial dysfunction involving cell junctions, cytoskeletal architecture, and Weibel-Palade bodies, while disrupting hemostasis.

Stritt S et al.

Haematologica, 2023

35638551 (PubMed )
Supplement: 2022_280816_STRITT_SUPPL.pdf

Rare catastrophes and evolutionary legacies: human germline gene variants in MLKL and the necroptosis signalling pathway.

Garnish SE et al.

Biochemical Society Transactions, 2022

A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction.

Hildebrand JM et al.

Nature Communications, 2020

Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Schrader A et al.

Nature Communications, 2018

29449575 (PubMed )
Supplement: 41467_2017_2688_MOESM20_ESM.xlsx › b__Freq_TP096

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

XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Talukder AK et al.

Plos One, 2015

25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC8_ERR166330
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