rs1957358
This is a intron variant variant in the SAMD4A gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Multiple single nucleotide polymorphism analysis and association of specific genotypes in FHIT, SAMD4A, and ANKRD17 in Indian patients with oral cancerReviewWendy D'Souza et al.(2017)· Head & Neck
A comprehensive review of SAMD4 (sterile alpha motif domain containing protein 4) family members, which are conserved RNA-binding proteins involved in post-transcriptional regulation, mRNA stability, and translation repression. The paper discusses the structural characteristics, biological functions, molecular mechanisms, and disease associations of SAMD4A and SAMD4B, including roles in myopathy, bone development, neural development, and various cancers such as ovarian, colorectal, breast, and oral cancer.
About SAMD4A
Sterile alpha motifs (SAMs) in proteins such as SAMD4A are part of an RNA-binding domain that functions as a posttranscriptional regulator by binding to an RNA sequence motif known as the Smaug recognition element, which was named after the Drosophila Smaug protein (Baez and Boccaccio, 2005 [PubMed 16221671]).[supplied by OMIM, Mar 2008]
View all SAMD4A variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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