Varaico: Literature-Extracted Genetic Variants

Gene:LMAN1
Variant:p.W67S
Back to variants list

LMAN1

NM_005570.4:p.W67S

Associated Papers

Structure of full-length ERGIC-53 in complex with MCFD2 for cargo transport.

Watanabe S et al.

Nature Communications, 2024

Rare inherited coagulation and fibrinolytic defects that challenge diagnostic laboratories.

Mathews N et al.

International Journal of Laboratory Hematology, 2023

Separate roles of LMAN1 and MCFD2 in ER-to-Golgi trafficking of FV and FVIII.

Zhang Y et al.

Blood Advances, 2023

LMAN1-MCFD2 complex is a cargo receptor for the ER-Golgi transport of α1-antitrypsin.

Zhang Y et al.

The Biochemical Journal, 2022

Altered phenotype in LMAN1-deficient mice with low levels of residual LMAN1 expression.

Everett LA et al.

Blood Advances, 2020

Combined deficiency of factors V and VIII by chance coinheritance of parahaemophilia and haemophilia A, but not by mutations of either LMAN1 or MCFD2, in a Japanese family.

Suzuki S et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2018

Combined deficiency of coagulation factors V and VIII: an update.

Zheng C et al.

Seminars in Thrombosis and Hemostasis, 2013

Molecular basis of LMAN1 in coordinating LMAN1-MCFD2 cargo receptor formation and ER-to-Golgi transport of FV/FVIII.

Zheng C et al.

Blood, 2010

Crystal structure of the LMAN1-CRD/MCFD2 transport receptor complex provides insight into combined deficiency of factor V and factor VIII.

Wigren E et al.

Febs Letters, 2010

A novel missense mutation causing abnormal LMAN1 in a Japanese patient with combined deficiency of factor V and factor VIII.

Yamada T et al.

American Journal of Hematology, 2009

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."