torsin-1A-interacting protein 1 isoform 2 [Homo sapiens]

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TOR1AIP1-Associated Nuclear Envelopathies. [Int J Mol Sci. 2023]
TOR1AIP1-Associated Nuclear Envelopathies.
Mackels L, Liu X, Bonne G, Servais L. Int J Mol Sci. 2023 Apr 7; 24(8). Epub 2023 Apr 7.
Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies. [Hum Genet. 2020]
Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies.
Lessel I, Chen MJ, Lüttgen S, Arndt F, Fuchs S, Meien S, Thiele H, Jones JR, Shaw BR, Crossman DK, et al. Hum Genet. 2020 Apr; 139(4):483-498. Epub 2020 Feb 13.
Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy. [Nat Commun. 2019]
Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy.
Fichtman B, Zagairy F, Biran N, Barsheshet Y, Chervinsky E, Ben Neriah Z, Shaag A, Assa M, Elpeleg O, Harel A, et al. Nat Commun. 2019 Feb 5; 10(1):605. Epub 2019 Feb 5.

RefSeq genomic sequence
See the genomic reference sequence for the TOR1AIP1 gene (NG_042316.1).
RefSeq mRNA
See reference mRNA sequence for the TOR1AIP1 gene (NM_015602.4).
RefSeq protein isoforms
See the other reference sequence protein isoform for the TOR1AIP1 gene (NP_001254507.1).

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NP_056417 [Domain Mapping of Disease Mut...]
NP_056417
Domain Mapping of Disease Mutations
Ensembl [Ensembl]
Ensembl
OncoMX cancer biomarker resource [OncoMX cancer biomarker resou...]
OncoMX cancer biomarker resource
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
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reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

torsin-1A-interacting protein 1 isoform 2 [Homo sapiens]
torsin-1A-interacting protein 1 isoform 2 [Homo sapiens]
gi|39753957|ref|NP_056417.2|

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