Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KLKB1

Variant:p.V444_W445insT

Back to variants list

KLKB1

NM_000892.5:p.V444_W445insT

hg38:chr4:186254604 G>GNNN

Associated Papers

Prekallikrein deficiency due to homozygous KLKB1(+) mutation c.444_445insT (p.Ser151PhefsTer34).

Abraham RM et al.

International Journal of Laboratory Hematology, 2022

34847617 (PubMed )

Select a paper to view details

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."