RecName: Full=Capping protein, Arp2/3 and myosin-I linker protein 2; A - Protein

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Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency. [J Exp Med. 2023]
Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency.
Lévy R, Gothe F, Momenilandi M, Magg T, Materna M, Peters P, Raedler J, Philippot Q, Rack-Hoch AL, Langlais D, et al. J Exp Med. 2023 Feb 6; 220(2). Epub 2022 Dec 14.
Novel CARMIL2 loss-of-function variants are associated with pediatric inflammatory bowel disease. [Sci Rep. 2021]
Novel CARMIL2 loss-of-function variants are associated with pediatric inflammatory bowel disease.
Bosa L, Batura V, Colavito D, Fiedler K, Gaio P, Guo C, Li Q, Marzollo A, Mescoli C, Nambu R, et al. Sci Rep. 2021 Mar 15; 11(1):5945. Epub 2021 Mar 15.
RLTPR Q575E: A novel recurrent gain-of-function mutation in patients with adult T-cell leukemia/lymphoma. [Eur J Haematol. 2021]
RLTPR Q575E: A novel recurrent gain-of-function mutation in patients with adult T-cell leukemia/lymphoma.
Uchida Y, Yoshimitsu M, Hachiman M, Kusano S, Arima N, Shima K, Hayashida M, Kamada Y, Nakamura D, Arai A, et al. Eur J Haematol. 2021 Feb; 106(2):221-229. Epub 2020 Nov 17.

RefSeq genomic sequence
See the genomic reference sequence for the CARMIL2 gene (NG_054728.1).
RefSeq protein isoforms
See 12 reference sequence protein isoforms for the CARMIL2 gene.

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Q6F5E8 [Domain Mapping of Disease Mut...]
Q6F5E8
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
Reactome [Reactome]
Reactome
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

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Protein