KRAS G12V

Kras突变是胰腺癌中最常见的突变,在90%的病例中发生。其中,G12d激活突变最为普遍,导致GTPase活性丧失,进而导致Kras的组成性活性形式。这足以引起癌前胰腺上皮内病变。
KRAS mutations are the most common mutations in pancreatic cancer occurring in \u003e 90% of cases. Of these the G12D activating mutation is the most prevalent and results in a loss of GTPase activity which in turn leads to a constitutively active form of KRAS. This is enough to cause pre-cancerous pancreatic intraepithelial lesions

别名

GLY12VAL,RS121913529
Allele Registry ID:CA122540
ClinVar ID:12583

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
122539828425398284CA
Transcript
ENST00000256078.4

基因序列

NM_004985.4:c.35G>003eT
NP_004976.2:p.Gly12Val
NC_000012.11:g.25398284C>003eA
ENST00000256078.4:c.35G>003eT