KCNQ1 c.873A>T ;(p.S291=)

Variant ID: 11-2594168-A-T

NM_000218.2(KCNQ1):c.873A>T;(p.S291=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics
Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2015-12

Variant appearance in text: KCNQ1: S291S
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
View BVdb publication page



KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population.

Human Mutation
Liu, Wenling W; Yang, Junguo J; Hu, Dayi D; Kang, Cailian C; Li, Cuilan C; Zhang, Shuoyan S; Li, Ping P; Chen, Zhijian Z; Qin, Xuguang X; Ying, Kang K; Li, Yuntian Y; Li, Yushu Y; Li, Zhiming Z; Cheng, Xin X; Li, Lei L; Qi, Yu Y; Chen, Shenghan S; Wang, Qing Q
Publication Date: 2002-12

Variant appearance in text: KCNQ1: S291S
PubMed Link: 12442276
Variant Present in the following documents:
  • Main text
View BVdb publication page