KLF10 c.646A>G ;(p.T216A)

Variant ID: 8-103663914-T-C

NM_005655.3(KLF10):c.646A>G;(p.T216A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications
Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X
Publication Date: 2022-02-08

Variant appearance in text: KLF10: T216A
PubMed Link: 35136070
Variant Present in the following documents:
  • 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes.

European Heart Journal
Walsh, Roddy R; Buchan, Rachel R; Wilk, Alicja A; John, Shibu S; Felkin, Leanne E LE; Thomson, Kate L KL; Chiaw, Tang Hak TH; Loong, Calvin Chin Woon CCW; Pua, Chee Jian CJ; Raphael, Claire C; Prasad, Sanjay S; Barton, Paul J PJ; Funke, Birgit B; Watkins, Hugh H; Ware, James S JS; Cook, Stuart A SA
Publication Date: 2017-12-07

Variant appearance in text: KLF10: 646A>G; T216A
PubMed Link: 28082330
Variant Present in the following documents:
  • ehw603_supplementary_tables_s1_s5_s7.xlsx, sheet 2
  • ehw603_supplementary_tables_s1_s5_s7.xlsx, sheet 3
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TGFβ-inducible early gene-1 (TIEG1) mutations in hypertrophic cardiomyopathy.

Journal Of Cellular Biochemistry
Bos, J Martijn JM; Subramaniam, Malayannan M; Hawse, John R JR; Christiaans, Imke I; Rajamannan, Nalini M NM; Maleszewski, Joseph J JJ; Edwards, William D WD; Wilde, Arthur A M AA; Spelsberg, Thomas C TC; Ackerman, Michael J MJ
Publication Date: 2012-06

Variant appearance in text: TIEG1: T216A
PubMed Link: 22234868
Variant Present in the following documents:
  • Main text
View BVdb publication page