KCNQ1 c.446C>T ;(p.A149V)

Variant ID: 11-2549217-C-T

NM_000218.2(KCNQ1):c.446C>T;(p.A149V)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Integrated proteogenomic characterization across major histological types of pituitary neuroendocrine tumors.

Cell Research
Zhang, Fan F; Zhang, Qilin Q; Zhu, Jiajun J; Yao, Boyuan B; Ma, Chi C; Qiao, Nidan N; He, Shiman S; Ye, Zhao Z; Wang, Yunzhi Y; Han, Rui R; Feng, Jinwen J; Wang, Yongfei Y; Qin, Zhaoyu Z; Ma, Zengyi Z; Li, Kai K; Zhang, Yichao Y; Tian, Sha S; Chen, Zhengyuan Z; Tan, Subei S; Wu, Yue Y; Ran, Peng P; Wang, Ye Y; Ding, Chen C; Zhao, Yao Y
Publication Date: 2022-12

Variant appearance in text: KCNQ1: 446C>T; A149V; rs867900631
PubMed Link: 36307579
Variant Present in the following documents:
  • 41422_2022_736_MOESM10_ESM.xlsx, sheet 3
View BVdb publication page



ML277 regulates KCNQ1 single-channel amplitudes and kinetics, modified by voltage sensor state.

The Journal Of General Physiology
Eldstrom, Jodene J; McAfee, Donald A DA; Dou, Ying Y; Wang, Yundi Y; Fedida, David D
Publication Date: 2021-12-06

Variant appearance in text: KCNQ1: A149V
PubMed Link: 34636894
Variant Present in the following documents:
  • Main text
  • JGP_202112969.pdf
View BVdb publication page



Mechanisms of KCNQ1 channel dysfunction in long QT syndrome involving voltage sensor domain mutations.

Science Advances
Huang, Hui H; Kuenze, Georg G; Smith, Jarrod A JA; Taylor, Keenan C KC; Duran, Amanda M AM; Hadziselimovic, Arina A; Meiler, Jens J; Vanoye, Carlos G CG; George, Alfred L AL; Sanders, Charles R CR
Publication Date: 2018-03

Variant appearance in text: KCNQ1: A149V
PubMed Link: 29532034
Variant Present in the following documents:
  • Main text
  • aar2631.pdf
View BVdb publication page