KCNQ1 c.1512A>T ;(p.S504=)

Variant ID: 11-2683309-A-T

NM_000218.2(KCNQ1):c.1512A>T;(p.S504=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Co-occurrence CDK4/6 amplification serves as biomarkers of de novo EGFR TKI resistance in sensitizing EGFR mutation non-small cell lung cancer.

Scientific Reports
Sitthideatphaiboon, Piyada P; Teerapakpinyo, Chinachote C; Korphaisarn, Krittiya K; Leelayuwatanakul, Nophol N; Pornpatrananrak, Nopporn N; Poungvarin, Naravat N; Chantranuwat, Poonchavist P; Shuangshoti, Shanop S; Aporntewan, Chatchawit C; Chintanapakdee, Wariya W; Sriuranpong, Virote V; Vinayanuwattikun, Chanida C
Publication Date: 2022-02-09

Variant appearance in text: KCNQ1: S504S
PubMed Link: 35140316
Variant Present in the following documents:
  • 41598_2022_6239_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Co-occurrence CDK4/6 amplification serves as biomarkers of de novo EGFR TKI resistance in sensitizing EGFR mutation non-small cell lung cancer.

Scientific Reports
Sitthideatphaiboon, Piyada P; Teerapakpinyo, Chinachote C; Korphaisarn, Krittiya K; Leelayuwatanakul, Nophol N; Pornpatrananrak, Nopporn N; Poungvarin, Naravat N; Chantranuwat, Poonchavist P; Shuangshoti, Shanop S; Aporntewan, Chatchawit C; Chintanapakdee, Wariya W; Sriuranpong, Virote V; Vinayanuwattikun, Chanida C
Publication Date: 2022-02-09

Variant appearance in text: KCNQ1: S504S
PubMed Link: 35140316
Variant Present in the following documents:
  • 41598_2022_6239_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Distinct mutation profiles between primary bladder cancer and circulating tumor cells warrant the use of circulating tumors cells as cellular resource for mutation follow-up.

Bmc Cancer
Kim, Tae-Min TM; Yoo, Jin-Seon JS; Moon, Hyong Woo HW; Hur, Kyung Jae KJ; Choi, Jin Bong JB; Hong, Sung-Hoo SH; Lee, Ji Youl JY; Ha, U-Syn US
Publication Date: 2020-12-07

Variant appearance in text: KCNQ1: S504S
PubMed Link: 33287735
Variant Present in the following documents:
  • 12885_2020_7684_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page