rs146370051
This is a variant in the ASCC1 gene that changes a asparagine to an serine.
▶ClinVar annotation
BARRETT ESOPHAGUS/ESOPHAGEAL ADENOCARCINOMA; Spinal muscular atrophy with congenital bone fractures 2 (SMABF2); not specified
View on ClinVar →About ASCC1
This gene encodes a subunit of the activating signal cointegrator 1 (ASC-1) complex. The ASC-1 complex is a transcriptional coactivator that plays an important role in gene transactivation by multiple transcription factors including activating protein 1 (AP-1), nuclear factor kappa-B (NF-kB) and serum response factor (SRF). The encoded protein contains an N-terminal KH-type RNA-binding motif which is required for AP-1 transactivation by the ASC-1 complex. Mutations in this gene are associated with Barrett esophagus and esophageal adenocarcinoma. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
View all ASCC1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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