Homo sapiens collagen type XVII alpha 1 chain (COL17A1), mRNA

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Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta. [J Med Genet. 2024]
Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta.
Hany U, Watson CM, Liu L, Smith CEL, Harfoush A, Poulter JA, Nikolopoulos G, Balmer R, Brown CJ, Patel A, et al. J Med Genet. 2024 Mar 21; 61(4):347-355. Epub 2024 Mar 21.
Levels of type XVII collagen (BP180) ectodomain are elevated in circulation from patients with multiple cancer types and is prognostic for patients with metastatic colorectal cancer. [BMC Cancer. 2023]
Levels of type XVII collagen (BP180) ectodomain are elevated in circulation from patients with multiple cancer types and is prognostic for patients with metastatic colorectal cancer.
Crespo-Bravo M, Thorlacius-Ussing J, Nissen NI, Pedersen RS, Boisen MK, Liljefors M, Johansen AZ, Johansen JS, Karsdal MA, Willumsen N. BMC Cancer. 2023 Oct 6; 23(1):949. Epub 2023 Oct 6.
Epithelial recurrent erosion dystrophy (ERED) from the splice site altering COL17A1 variant c.3156C>T in families of Finnish-Swedish ancestry. [Acta Ophthalmol. 2024]
Epithelial recurrent erosion dystrophy (ERED) from the splice site altering COL17A1 variant c.3156C>T in families of Finnish-Swedish ancestry.
Turunen JA, Tuisku IS, Repo P, Mörtenhumer S, Kawan S, Järvinen RS, Korsbäck A, Immonen AT, Kivelä TT. Acta Ophthalmol. 2024 May; 102(3):296-305. Epub 2023 Jun 8.

RefSeq protein product
See the reference protein sequence for collagen alpha-1(XVII) chain (NP_000485.3).

Protein
Protein sequence from Nucleotide coding region
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Taxonomy
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OMIM
OMIM records associated with Nucleotide sequence
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txid1779152[Organism:exp] (350)
Identical Protein Groups
dbVar for Gene (Select 79705) (906)
dbVar
patatin-like phospholipase domain-containing protein 4 isoform X1 [Hippoglossus ...
patatin-like phospholipase domain-containing protein 4 isoform X1 [Hippoglossus stenolepis]
gi|2216697791|ref|XP_047195129.1|

Protein
Mus musculus checkpoint with forkhead and ring finger domains (Chfr), transcript...
Mus musculus checkpoint with forkhead and ring finger domains (Chfr), transcript variant 3, mRNA
gi|575771761|ref|NM_001289578.1|

Nucleotide

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Nucleotide