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SMARCB1 R374Q
GeneSMARCB1
Variantmissense
Amino Acid ChangeR374Q
Transcript ID (GRCh37/hg19)ENST00000263121
Codon374
Exon9
Genomic Coordinates (GRCh37/hg19)22:24176330-24176330
COSMIC ID998
Germline/Somatic?Somatic
Pertinent Negative In
Tumor TypePrimary Site
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Interpretations

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SMARCB1
Variants
SMARCB1 R374Q
Primary Sites
Rectum
Colon
Tumor Types
Adenocarcinoma
Interpretation

SMARCB1 is a member of the SWI/SNF chromatin remodeling complex and regulates transcription of several genes involved in cell proliferation. SMARCB1 R374Q does not lie within any known functional domains of the SMARCB1 protein. R374Q has been identified in sequencing studies, but has not been biochemically characterized and therefore, its effect on protein function is unknown. SMARCB1 mutations are rare in colorectal adenocarcinomas and are reported in only about 1% of cases. The clinicopathologic significance of SMARCB1 variants in colorectal cancer remains to be further elucidated.

Last updated: 2018-05-24 20:11:27 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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