DoCM - Database of Curated Mutations

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Variant Data

Location

HGVS: ENST00000256078:c.34G>A
Reference Version: GRCh37
Chromosome: 12
Start: 25398285
Stop: 25398285
Strand: -1
Transcript: ENST00000256078 (ensembl - 74_37)
Gene: KRAS ( View drug interactions on DGIdb )

Information

Reference: C
Variant: T
Amino Acid: p.G12S
Mutation Type: missense
Variant Type: SNV (SO:0001483)
cDNA Change: c.34
Tags: pathogenic likely pathogenic

Disease Data

Disease	Source	Batch	Tags	External Links
non-small cell lung carcinoma	Brose et al., 2002, Cancer Res.	My Cancer Genome (View variants)	pathogenic	My Cancer Genome
colorectal cancer	Rothenberg et al., 2005, J. Clin. Oncol.	My Cancer Genome (View variants)	pathogenic	My Cancer Genome
colorectal cancer	Lièvre et al., 2006, Cancer Res.	My Cancer Genome (View variants)	pathogenic	My Cancer Genome
thyroid cancer	Schubbert et al., 2007, Nat. Rev. Cancer	My Cancer Genome (View variants)	pathogenic	My Cancer Genome
colorectal cancer	Amado et al., 2008, J. Clin. Oncol.	My Cancer Genome (View variants)	pathogenic	My Cancer Genome
non-small cell lung carcinoma	Riely et al., 2008, Clin. Cancer Res.	My Cancer Genome (View variants)	pathogenic	My Cancer Genome
colorectal cancer	Bokemeyer et al., 2009, J. Clin. Oncol.	My Cancer Genome (View variants)	pathogenic	My Cancer Genome
thyroid cancer	Kloos et al., 2009, J. Clin. Oncol.	My Cancer Genome (View variants)	pathogenic	My Cancer Genome
colorectal cancer	Neumann et al., 2009, Pathol. Res. Pract.	My Cancer Genome (View variants)	pathogenic	My Cancer Genome
thyroid cancer	Hoftijzer et al., 2009, Eur. J. Endocrinol.	My Cancer Genome (View variants)	pathogenic	My Cancer Genome
colorectal cancer	Peeters et al., 2010, J. Clin. Oncol.	My Cancer Genome (View variants)	pathogenic	My Cancer Genome
colorectal cancer	Douillard et al., 2010, J. Clin. Oncol.	My Cancer Genome (View variants)	pathogenic	My Cancer Genome
colorectal cancer	Bokemeyer et al., 2011, Ann. Oncol.	My Cancer Genome (View variants)	pathogenic	My Cancer Genome
thyroid cancer	Ho et al., 2013, N. Engl. J. Med.	My Cancer Genome (View variants)	pathogenic	My Cancer Genome
non-small cell lung carcinoma	Koivunen et al., 2008, Clin. Cancer Res.	Literature (View variants)	likely pathogenic
non-small cell lung carcinoma	MacConaill et al., 2014, J Mol Diagn	Oncomap Variants (View variants)	likely pathogenic

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