Varaico: Literature-Extracted Genetic Variants

Gene:BTK
Variant:p.E205D
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BTK

NM_000061.3:p.E205D

Associated Papers

Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Pritchard AL et al.

Plos One, 2018

29641532 (PubMed )
Supplement: pone.0194098.s003.xlsx › UK10K_Kinase_

Hypomorphic Mutations in the BCR Signalosome Lead to Selective Immunoglobulin M Deficiency and Impaired B-cell Homeostasis.

Geier CB et al.

Frontiers in Immunology, 2018

Coding-region alterations in BTK do not universally cause X-linked agammaglobulinemia.

Abbott JK et al.

The Journal of Allergy and Clinical Immunology, 2013

Bruton tyrosine kinase (BTK) in X-linked agammaglobulinemia (XLA).

Vihinen M et al.

Frontiers in Bioscience : a Journal and Virtual Library, 2000

Missense mutations affecting a conserved cysteine pair in the TH domain of Btk.

Vihinen M et al.

Febs Letters, 1997

BTKbase, mutation database for X-linked agammaglobulinemia (XLA).

Vihinen M et al.

Nucleic Acids Research, 1996

BTKbase: a database of XLA-causing mutations. International Study Group.

Vihinen M et al.

Immunology Today, 1995

DNA-based mutation analysis of Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinaemia.

Vorechovský I et al.

Human Molecular Genetics, 1995

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