RecName: Full=Transcriptional activator GLI3; AltName: Full=GLI3 form - Protein

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A novel variant of GLI3, p.Asp1514Thrfs*5, is identified in a Chinese family affected by polydactyly. [Mol Genet Genomic Med. 2022]
A novel variant of GLI3, p.Asp1514Thrfs*5, is identified in a Chinese family affected by polydactyly.
Wang Y, Hao X, Jia X, Ji W, Yuan S, Gnamey EJA, Huang M, Xu L, Zhang X, Bai J, et al. Mol Genet Genomic Med. 2022 Jul; 10(7):e1968. Epub 2022 May 12.
GLI3 variants causing isolated polysyndactyly are not restricted to the protein's C-terminal third. [Clin Genet. 2021]
GLI3 variants causing isolated polysyndactyly are not restricted to the protein's C-terminal third.
Sczakiel HL, Hülsemann W, Holtgrewe M, Abad-Perez AT, Elsner J, Schwartzmann S, Horn D, Spielmann M, Mundlos S, Mensah MA. Clin Genet. 2021 Dec; 100(6):758-765. Epub 2021 Sep 16.
Homozygous GLI3 variants observed in three unrelated patients presenting with syndromic polydactyly. [Am J Med Genet A. 2021]
Homozygous GLI3 variants observed in three unrelated patients presenting with syndromic polydactyly.
El Mouatani A, Van Winckel G, Zaafrane-Khachnaoui K, Whalen S, Achaiaa A, Kaltenbach S, Superti-Furga A, Vekemans M, Fodstad H, Giuliano F, et al. Am J Med Genet A. 2021 Dec; 185(12):3831-3837. Epub 2021 Jul 23.

RefSeq genomic sequence
See the genomic reference sequence for the GLI3 gene (NG_008434.2).
RefSeq protein isoforms
See 15 reference sequence protein isoforms for the GLI3 gene.

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P10071 [Domain Mapping of Disease Mut...]
P10071
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
Reactome [Reactome]
Reactome
reagent reviews [ExactAntigen/Labome]
reagent reviews
ExactAntigen/Labome
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

RecName: Full=Transcriptional activator GLI3; AltName: Full=GLI3 form of 190 kDa...
RecName: Full=Transcriptional activator GLI3; AltName: Full=GLI3 form of 190 kDa; Short=GLI3-190; AltName: Full=GLI3 full-length protein; Short=GLI3FL; Contains: RecName: Full=Transcriptional repressor GLI3R; AltName: Full=GLI3 C-terminally truncated form; AltName: Full=GLI3 form of 83 kDa; Short=GLI3-83
gi|269849770|sp|P10071.6|GLI3_HUMAN

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