Varaico: Literature-Extracted Genetic Variants

Gene:CARMIL2
Variant:p.S230del1
Back to variants list

CARMIL2

NM_001013838.3:p.S230del1

Associated Papers

Evolution and long-term outcomes of combined immunodeficiency due to CARMIL2 deficiency.

Kolukisa B et al.

Allergy, 2022

Case report: Primary immunodeficiency due to a novel mutation in CARMIL2 and its response to combined immunomodulatory therapy.

Zhu Y et al.

Frontiers in Pediatrics, 2022

36727012 (PubMed )
Supplement: Datasheet3.pdf

Exogenous interleukin-2 can rescue in-vitro T cell activation and proliferation in patients with a novel capping protein regulator and myosin 1 linker 2 mutation.

Shamriz O et al.

Clinical and Experimental Immunology, 2020

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."