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gene: COL12A1

id1303
symbolCOL12A1
organismHomo sapiens
full namecollagen type XII alpha 1 chain
summaryThis gene encodes the alpha chain of type XII collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XII collagen is a homotrimer found in association with type I collagen, an association that is thought to modify the interactions between collagen I fibrils and the surrounding matrix. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
variant-disease

NM_004370.6(COL12A1):c.7840+1G>A AND Ullrich congenital muscular dystrophy 2

NM_004370.6(COL12A1):c.834T>G (p.Ala278=) AND not specified

NM_004370.6(COL12A1):c.3565+18A>G AND not specified

NM_004370.6(COL12A1):c.2007G>A (p.Ala669=) AND not specified

NM_004370.6(COL12A1):c.9172G>A (p.Gly3058Ser) AND not specified

... 459 more


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