Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.K145N
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HBB

NM_000518.5:p.K145N

Associated Papers

Wide spectrum of novel and rare hemoglobin variants in the multi-ethnic Indian population: A review.

Thaker P et al.

International Journal of Laboratory Hematology, 2024

Hb Andrew-Minneapolis Variant in a Turkish Family

Sümter H et al.

Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2023

Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.

Tamana S et al.

Elife, 2022

36453528 (PubMed )
Supplement: elife-79713-supp2.xlsx › Input-HBB

Hemoglobin Andrew-Minneapolis-Bijnor HBB:c.[413T>C;435G>C] in a complex genotype with β-thalassemia trait: A diagnostic and management conundrum.

Khaire NS et al.

International Journal of Laboratory Hematology, 2022

Are transient protein-protein interactions more dispensable?

Ghadie MA et al.

Plos Computational Biology, 2022

35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _B__Y2H-SI_disMut_edgotypes

Hb Kalundborg [β79(EF3)Asp→Glu; HBB: c.240C>a], a Possible Low-affinity Hemoglobin Variant Detected during Hb A1c Measurement.

Ahmad-Nielsen EB et al.

Hemoglobin, 2022

Mutation Edgotype Drives Fitness Effect in Human.

Ghadie M et al.

Frontiers in Bioinformatics, 2021

36303776 (PubMed )
Supplement: Table2.XLSX › _B__Y2H-SI_pathMt_edgotype

Coinheritance of High Oxygen Affinity Hb Helsinki [HBB: c.248A>T; β82(EF6)Lys→Met] with Hb H Disease.

Lee SY et al.

Hemoglobin, 2017

Combination of Hb Heze [β144(HC1)Lys→Arg; HBB: c.434A>G] and β0-Thalassemia in a Chinese Patient with β-Thalassemia Intermedia.

Li Y et al.

Hemoglobin, 2017

Hb San Cataldo [β144(HC1)Lys→Thr; HBB: C.434A > C]: A New Hemoglobin Variant with Increased Affinity for Oxygen.

Vinciguerra M et al.

Hemoglobin, 2016

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