Varaico: Literature-Extracted Genetic Variants

Gene:BLK
Variant:p.Y501F
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BLK

NM_001715.3:p.Y501F

Associated Papers

Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus.

Jiang SH et al.

Nature Communications, 2019

A novel BLK-induced tumor model.

Petersen DL et al.

Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine, 2017

The SLE variant Ala71Thr of BLK severely decreases protein abundance and binding to BANK1 through impairment of the SH3 domain function.

Díaz-Barreiro A et al.

Genes and Immunity, 2016

BANK1 and BLK act through phospholipase C gamma 2 in B-cell signaling.

Bernal-Quirós M et al.

Plos One, 2013

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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."