SLC6A8 c.1254+1G>A

Variant ID: X-152959473-G-A

NM_005629.3(SLC6A8):c.1254+1G>A

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: SLC6A8: 1254+1G>A
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: 2021-07-13

Variant appearance in text: SLC6A8: 1254+1G>A
PubMed Link: 34255132
Variant Present in the following documents:
  • 262_2021_3012_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



X-linked creatine transporter deficiency results in prolonged QTc and increased sudden death risk in humans and disease model.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Levin, Mark D MD; Bianconi, Simona S; Smith, Andrew A; Cawley, Niamh X NX; Do, An Dang AD; Hammond, Dylan D; Grafstein, Julia F JF; Thurm, Audrey A; Miller, Judith J; Perreault, John J; Noguchi, Audrey A; Springer, Danielle D; Kozel, Beth A BA; Spurney, Christopher F CF; Wassif, Christopher A CA; Yu, Zu-Xi ZX; Schulze, Andreas A; Porter, Forbes D FD; Hannah-Shmouni, Fady F
Publication Date: 2021-10

Variant appearance in text: SLC6A8: 1254+1G>A
PubMed Link: 34050321
Variant Present in the following documents:
  • NIHMS1717831-supplement-Supplementary___Appendix__online_only_material__etc__.pdf
View BVdb publication page



Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cell Reports
Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z
Publication Date: 2018-10-30

Variant appearance in text: SLC6A8: 1254+1G>A
PubMed Link: 30380422
Variant Present in the following documents:
  • NIHMS1511993-supplement-6.xlsx, sheet 1
View BVdb publication page