CASKIN1 c.1922C>T ;(p.P641L)

Variant ID: 16-2231447-G-A

NM_020764.3(CASKIN1):c.1922C>T;(p.P641L)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Huang, Huiyan H; Pan, Jiehong J; Spielberg, David R DR; Hanchard, Neil A NA; Scott, Daryl A DA; Burrage, Lindsay C LC; Dai, Hongzheng H; Murdock, David D; Rosenfeld, Jill A JA; Mohammad, Ariz A; Huang, Tao T; Lindsey, Anika G AG; Kim, Hyori H; Chen, Jian J; Ramu, Avinash A; Morrison, Stephanie A SA; Dawson, Zachary D ZD; Hu, Alex Z AZ; Tycksen, Eric E; Silverman, Gary A GA; Baldridge, Dustin D; Wambach, Jennifer A JA; , ; Pak, Stephen C SC; Brody, Steven L SL; Schedl, Tim T
Publication Date: 2022-02-08

Variant appearance in text: CASKIN1: 1922C>T; Pro641Leu
PubMed Link: 35121658
Variant Present in the following documents:
  • pnas.2105228119.sapp.pdf
View BVdb publication page



A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Huang, Huiyan H; Pan, Jiehong J; Spielberg, David R DR; Hanchard, Neil A NA; Scott, Daryl A DA; Burrage, Lindsay C LC; Dai, Hongzheng H; Murdock, David D; Rosenfeld, Jill A JA; Mohammad, Ariz A; Huang, Tao T; Lindsey, Anika G AG; Kim, Hyori H; Chen, Jian J; Ramu, Avinash A; Morrison, Stephanie A SA; Dawson, Zachary D ZD; Hu, Alex Z AZ; Tycksen, Eric E; Silverman, Gary A GA; Baldridge, Dustin D; Wambach, Jennifer A JA; , ; Pak, Stephen C SC; Brody, Steven L SL; Schedl, Tim T
Publication Date: 2022-02-08

Variant appearance in text: CASKIN1: 1922C>T; Pro641Leu
PubMed Link: 35121658
Variant Present in the following documents:
  • pnas.2105228119.sapp.pdf
View BVdb publication page



Genomic Landscape Survey Identifies SRSF1 as a Key Oncodriver in Small Cell Lung Cancer.

Plos Genetics
Jiang, Liyan L; Huang, Jiaqi J; Higgs, Brandon W BW; Hu, Zhibin Z; Xiao, Zhan Z; Yao, Xin X; Conley, Sarah S; Zhong, Haihong H; Liu, Zheng Z; Brohawn, Philip P; Shen, Dong D; Wu, Song S; Ge, Xiaoxiao X; Jiang, Yue Y; Zhao, Yizhuo Y; Lou, Yuqing Y; Morehouse, Chris C; Zhu, Wei W; Sebastian, Yinong Y; Czapiga, Meggan M; Oganesyan, Vaheh V; Fu, Haihua H; Niu, Yanjie Y; Zhang, Wei W; Streicher, Katie K; Tice, David D; Zhao, Heng H; Zhu, Meng M; Xu, Lin L; Herbst, Ronald R; Su, Xinying X; Gu, Yi Y; Li, Shyoung S; Huang, Lihua L; Gu, Jianren J; Han, Baohui B; Jallal, Bahija B; Shen, Hongbing H; Yao, Yihong Y
Publication Date: 2016-04

Variant appearance in text: CASKIN1: P641L
PubMed Link: 27093186
Variant Present in the following documents:
  • pgen.1005895.s019.xlsx, sheet 1
View BVdb publication page



Genomic characterization of a large panel of patient-derived hepatocellular carcinoma xenograft tumor models for preclinical development.

Oncotarget
Gu, Qingyang Q; Zhang, Bin B; Sun, Hongye H; Xu, Qiang Q; Tan, Yexiong Y; Wang, Guan G; Luo, Qin Q; Xu, Weiguo W; Yang, Shuqun S; Li, Jian J; Fu, Jing J; Chen, Lei L; Yuan, Shengxian S; Liang, Guibai G; Ji, Qunsheng Q; Chen, Shu-Hui SH; Chan, Chi-Chung CC; Zhou, Weiping W; Xu, Xiaowei X; Wang, Hongyang H; Fang, Douglas D DD
Publication Date: 2015-08-21

Variant appearance in text: CASKIN1: P641L
PubMed Link: 26062443
Variant Present in the following documents:
  • oncotarget-06-20160-s004.xlsx, sheet 1
View BVdb publication page