RBMXL1 c.596T>C ;(p.L199P)

Variant ID: 1-89448914-A-G

NM_001162536.2(RBMXL1):c.596T>C;(p.L199P)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Whole-exome sequencing of epithelial ovarian carcinomas differing in resistance to platinum therapy.

Life Science Alliance
Hlaváč, Viktor V; Holý, Petr P; Václavíková, Radka R; Rob, Lukáš L; Hruda, Martin M; Mrhalová, Marcela M; Černaj, Petr P; Bouda, Jiří J; Souček, Pavel P
Publication Date: 2022-10-13

Variant appearance in text: RBMXL1: Leu199Pro
PubMed Link: 36229065
Variant Present in the following documents:
  • LSA-2022-01551_TableS16.xlsx, sheet 1
View BVdb publication page



Identification of KRAS G12V associated clonal neoantigens and immune microenvironment in long-term survival of pancreatic adenocarcinoma.

Cancer Immunology, Immunotherapy : Cii
Wang, Chao C; Shi, Min M; Zhang, Lei L; Ji, Jun J; Xie, Ruyan R; Wu, Chao C; Guo, Xianchao X; Yang, Ying Y; Zhou, Wei W; Peng, Chenhong C; Zhang, Henghui H; Yuan, Fei F; Zhang, Jun J
Publication Date: 2021-07-13

Variant appearance in text: RBMXL1: L199P
PubMed Link: 34255132
Variant Present in the following documents:
  • 262_2021_3012_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Identification of KRAS G12V associated clonal neoantigens and immune microenvironment in long-term survival of pancreatic adenocarcinoma.

Cancer Immunology, Immunotherapy : Cii
Wang, Chao C; Shi, Min M; Zhang, Lei L; Ji, Jun J; Xie, Ruyan R; Wu, Chao C; Guo, Xianchao X; Yang, Ying Y; Zhou, Wei W; Peng, Chenhong C; Zhang, Henghui H; Yuan, Fei F; Zhang, Jun J
Publication Date: 2022-02

Variant appearance in text: RBMXL1: L199P
PubMed Link: 34255132
Variant Present in the following documents:
  • 262_2021_3012_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Renal hypouricemia caused by novel compound heterozygous mutations in the SLC22A12 gene: a case report with literature review.

Bmc Medical Genetics
Zhou, Zhaowei Z; Ma, Lidan L; Zhou, Juan J; Song, Zhijian Z; Zhang, Jinmai J; Wang, Ke K; Chen, Boyu B; Pan, Dun D; Li, Zhiqiang Z; Li, Changgui C; Shi, Yongyong Y
Publication Date: 2018-08-10

Variant appearance in text: RBMXL1: L199P; rs200923203
PubMed Link: 30097038
Variant Present in the following documents:
  • 12881_2018_595_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page