RET c.34_35delinsGC ;(p.R12A)

Variant ID: 10-43572740-CG-GC

NM_020975.4(RET):c.34_35delinsGC;(p.R12A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Capturing variation impact on molecular interactions in the IMEx Consortium mutations data set.

Nature Communications
, ; Del-Toro, N N; Duesbury, M M; Koch, M M; Perfetto, L L; Shrivastava, A A; Ochoa, D D; Wagih, O O; PiƱero, J J; Kotlyar, M M; Pastrello, C C; Beltrao, P P; Furlong, L I LI; Jurisica, I I; Hermjakob, H H; Orchard, S S; Porras, P P
Publication Date: 2019-01-02

Variant appearance in text: HSCR1: R12A
PubMed Link: 30602777
Variant Present in the following documents:
  • 41467_2018_7709_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Copy number variation analysis based on AluScan sequences.

Journal Of Clinical Bioinformatics
Yang, Jian-Feng JF; Ding, Xiao-Fan XF; Chen, Lei L; Mat, Wai-Kin WK; Xu, Michelle Zhi MZ; Chen, Jin-Fei JF; Wang, Jian-Min JM; Xu, Lin L; Poon, Wai-Sang WS; Kwong, Ava A; Leung, Gilberto Ka-Kit GK; Tan, Tze-Ching TC; Yu, Chi-Hung CH; Ke, Yue-Bin YB; Xu, Xin-Yun XY; Ke, Xiao-Yan XY; Ma, Ronald Cw RC; Chan, Juliana Cn JC; Wan, Wei-Qing WQ; Zhang, Li-Wei LW; Kumar, Yogesh Y; Tsang, Shui-Ying SY; Li, Shao S; Wang, Hong-Yang HY; Xue, Hong H
Publication Date: 2014

Variant appearance in text: RET: R12A
PubMed Link: 25558350
Variant Present in the following documents:
  • Main text
  • 13336_2014_Article_15.pdf
View BVdb publication page