NRAS Q61R

NRAS q61突变在多发性骨髓瘤、胃肠道间质瘤、黑色素瘤和其他疾病中被发现。阿黑色素瘤患者在这个基因座有一个突变的治疗反应与Akylating剂替莫唑胺。然而,在结直肠癌患者中,这一基因座的突变被证明具有抗西妥昔单抗的作用。该位点突变的预后影响目前正在研究中。
NRAS Q61 mutations have been found in multiple myeloma, gastrointestinal stromal tumors, melanoma, and others. A melanoma patient harboring a mutation at this locus responded to treatment with the akylating agent temozolomide. However, in colorectal cancer patients, mutations at this locus have been shown to confer resistance to cetuximab. The prognostic impact of mutations at this locus is currently under study.

别名

GLN61ARG,RS11554290
Allele Registry ID:CA123618
ClinVar ID:13900

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
1115256529115256529TC
Transcript
ENST00000369535.4

基因序列

NM_002524.4:c.182A>003eG
NP_002515.1:p.Gln61Arg
NC_000001.10:g.115256529T>003eC
ENST00000369535.4:c.182A>003eG