RecName: Full=SWI/SNF complex subunit SMARCC1; AltName: Full=BRG1-asso - Protein

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A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus. [Brain. 2024]
A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus.
Singh AK, Allington G, Viviano S, McGee S, Kiziltug E, Ma S, Zhao S, Mekbib KY, Shohfi JP, Duy PQ, et al. Brain. 2024 Apr 4; 147(4):1553-1570.
SMARCC1 is a susceptibility gene for congenital hydrocephalus with an autosomal dominant inheritance mode and incomplete penetrance. [Prenat Diagn. 2023]
SMARCC1 is a susceptibility gene for congenital hydrocephalus with an autosomal dominant inheritance mode and incomplete penetrance.
Hourvitz N, Kurolap A, Mory A, Haratz KK, Kidron D, Malinger G, Baris Feldman H, Yaron Y. Prenat Diagn. 2023 Sep; 43(10):1374-1377. Epub 2023 Aug 28.
First reports of fetal SMARCC1 related hydrocephalus. [Eur J Med Genet. 2023]
First reports of fetal SMARCC1 related hydrocephalus.
Rive Le Gouard N, Nicolle R, Lefebvre M, Gelot A, Heide S, Gerasimenko A, Grigorescu R, Derive N, Jouannic JM, Garel C, et al. Eur J Med Genet. 2023 Aug; 66(8):104797. Epub 2023 Jun 5.

RefSeq protein
See the reference protein sequence for SWI/SNF complex subunit SMARCC1 (NP_003065.3).

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Q92922 [Domain Mapping of Disease Mut...]
Q92922
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
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RecName: Full=SWI/SNF complex subunit SMARCC1; AltName: Full=BRG1-associated fac...
RecName: Full=SWI/SNF complex subunit SMARCC1; AltName: Full=BRG1-associated factor 155; Short=BAF155; AltName: Full=SWI/SNF complex 155 kDa subunit; AltName: Full=SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily C member 1
gi|209572723|sp|Q92922.3|SMRC1_HUMA

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