rs619586

This is a coding sequence variant variant in the MALAT1 gene.

Research that mentions this SNP (1)

The expression of long non coding RNA genes is associated with expression with polymorphisms of HULC rs7763881 and MALAT1 rs619586 in hepatocellular carcinoma and HBV Egyptian patients
AssociationN=838Tarek M.K. Motawi et al.(2019)· Journal of Cellular Biochemistry

Case-control study of 459 gastric cancer patients and 379 controls in a Korean population examined the association between HULC rs7763881 polymorphism and gastric cancer risk. Overall analysis showed no significant association, but stratified analysis revealed that the CC genotype was significantly associated with increased risk in undifferentiated gastric cancer (OR = 1.85, 95% CI = 1.17–2.94, P = 0.009), diffuse-type GC (OR = 1.72, 95% CI = 1.05–2.82, P = 0.033), lymph node metastasis-positive tumors (OR = 2.02, 95% CI = 1.24–3.27, P = 0.004), and advanced tumor stages.

Traits studied:Colorectal cancerEsophageal squamous cell carcinomaGastric cancerGliomaHepatocellular carcinomaOsteosarcomaOvarian cancerPancreatic cancer

About MALAT1

This gene produces a precursor transcript from which a long non-coding RNA is derived by RNase P cleavage of a tRNA-like small ncRNA (known as mascRNA) from its 3' end. The resultant mature transcript lacks a canonical poly(A) tail but is instead stabilized by a 3' triple helical structure. This transcript is retained in the nucleus where it is thought to form molecular scaffolds for ribonucleoprotein complexes. It may act as a transcriptional regulator for numerous genes, including some genes involved in cancer metastasis and cell migration, and it is involved in cell cycle regulation. Its upregulation in multiple cancerous tissues has been associated with the proliferation and metastasis of tumor cells. [provided by RefSeq, Mar 2015]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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