ALK c.409C>A ;(p.R137S)

Variant ID: 2-30143117-G-T

NM_004304.4(ALK):c.409C>A;(p.R137S)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: ALK: R137S; rs757382067
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Mutations of 1p genes do not consistently abrogate tumor suppressor functions in 1p-intact neuroblastoma.

Bmc Cancer
Kuick, Chik Hong CH; Tan, Jia Ying JY; Jasmine, Deborah D; Sumanty, Tohari T; Ng, Alvin Y J AYJ; Venkatesh, Byrrappa B; Chen, Huiyi H; Loh, Eva E; Jain, Sudhanshi S; Seow, Wan Yi WY; Ng, Eileen H Q EHQ; Lian, Derrick W Q DWQ; Soh, Shui Yen SY; Chang, Kenneth T E KTE; Chen, Zhi Xiong ZX; Loh, Amos H P AHP
Publication Date: 2022-06-30

Variant appearance in text: rs757382067
PubMed Link: 35768791
Variant Present in the following documents:
  • 12885_2022_9800_MOESM1_ESM.pdf
View BVdb publication page



Deciphering Haplotypic Variation and Gene Expression Dynamics Associated with Nutritional and Cooking Quality in Rice.

Cells
Rana, Nitika N; Kumawat, Surbhi S; Kumar, Virender V; Bansal, Ruchi R; Mandlik, Rushil R; Dhiman, Pallavi P; Patil, Gunvant B GB; Deshmukh, Rupesh R; Sharma, Tilak Raj TR; Sonah, Humira H
Publication Date: 2022-03-28

Variant appearance in text: ALK: R137S
PubMed Link: 35406707
Variant Present in the following documents:
  • cells-11-01144.pdf
View BVdb publication page



Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04

Variant appearance in text: ALK: 409C>A; R137S
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Integrative analysis identifies lincRNAs up- and downstream of neuroblastoma driver genes.

Scientific Reports
Rombaut, Dries D; Chiu, Hua-Sheng HS; Decaesteker, Bieke B; Everaert, Celine C; Yigit, Nurten N; Peltier, Agathe A; Janoueix-Lerosey, Isabelle I; Bartenhagen, Christoph C; Fischer, Matthias M; Roberts, Stephen S; D'Haene, Nicky N; De Preter, Katleen K; Speleman, Frank F; Denecker, Geertrui G; Sumazin, Pavel P; Vandesompele, Jo J; Lefever, Steve S; Mestdagh, Pieter P
Publication Date: 2019-04-05

Variant appearance in text: ALK: R137S
PubMed Link: 30952905
Variant Present in the following documents:
  • 41598_2019_42107_MOESM1_ESM.pdf
View BVdb publication page