MYO1E c.2383G>A ;(p.G795R)

Variant ID: 15-59464193-C-T

NM_004998.3(MYO1E):c.2383G>A;(p.G795R)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Identification of KRAS G12V associated clonal neoantigens and immune microenvironment in long-term survival of pancreatic adenocarcinoma.

Cancer Immunology, Immunotherapy : Cii
Wang, Chao C; Shi, Min M; Zhang, Lei L; Ji, Jun J; Xie, Ruyan R; Wu, Chao C; Guo, Xianchao X; Yang, Ying Y; Zhou, Wei W; Peng, Chenhong C; Zhang, Henghui H; Yuan, Fei F; Zhang, Jun J
Publication Date: 2021-07-13

Variant appearance in text: MYO1E: 2383G>A; G795R
PubMed Link: 34255132
Variant Present in the following documents:
  • 262_2021_3012_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Identification of KRAS G12V associated clonal neoantigens and immune microenvironment in long-term survival of pancreatic adenocarcinoma.

Cancer Immunology, Immunotherapy : Cii
Wang, Chao C; Shi, Min M; Zhang, Lei L; Ji, Jun J; Xie, Ruyan R; Wu, Chao C; Guo, Xianchao X; Yang, Ying Y; Zhou, Wei W; Peng, Chenhong C; Zhang, Henghui H; Yuan, Fei F; Zhang, Jun J
Publication Date: 2022-02

Variant appearance in text: MYO1E: 2383G>A; G795R
PubMed Link: 34255132
Variant Present in the following documents:
  • 262_2021_3012_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.

Molecular Autism
Guo, Hui H; Wang, Tianyun T; Wu, Huidan H; Long, Min M; Coe, Bradley P BP; Li, Honghui H; Xun, Guanglei G; Ou, Jianjun J; Chen, Biyuan B; Duan, Guiqin G; Bai, Ting T; Zhao, Ningxia N; Shen, Yidong Y; Li, Yun Y; Wang, Yazhe Y; Zhang, Yu Y; Baker, Carl C; Liu, Yanling Y; Pang, Nan N; Huang, Lian L; Han, Lin L; Jia, Xiangbin X; Liu, Cenying C; Ni, Hailun H; Yang, Xinyi X; Xia, Lu L; Chen, Jingjing J; Shen, Lu L; Li, Ying Y; Zhao, Rongjuan R; Zhao, Wenjing W; Peng, Jing J; Pan, Qian Q; Long, Zhigao Z; Su, Wei W; Tan, Jieqiong J; Du, Xiaogang X; Ke, Xiaoyan X; Yao, Meiling M; Hu, Zhengmao Z; Zou, Xiaobing X; Zhao, Jingping J; Bernier, Raphael A RA; Eichler, Evan E EE; Xia, Kun K
Publication Date: 2018

Variant appearance in text: MYO1E: G795R
PubMed Link: 30564305
Variant Present in the following documents:
  • 13229_2018_247_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Whole exome sequencing identifies novel predisposing genes in neural tube defects.

Molecular Genetics & Genomic Medicine
Lemay, Philippe P; De Marco, Patrizia P; Traverso, Monica M; Merello, Elisa E; Dionne-Laporte, Alexandre A; Spiegelman, Dan D; Henrion, Édouard É; Diallo, Ousmane O; Audibert, François F; Michaud, Jacques L JL; Cama, Armando A; Rouleau, Guy A GA; Kibar, Zoha Z; Capra, Valeria V
Publication Date: 2019-01

Variant appearance in text: MYO1E: 2383G>A; Gly795Arg; rs180951130
PubMed Link: 30415495
Variant Present in the following documents:
  • Main text
  • MGG3-7-na.pdf
View BVdb publication page



TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications
Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N
Publication Date: 2018-11-01

Variant appearance in text: MYO1E: G795R; rs180951130
PubMed Link: 30385747
Variant Present in the following documents:
  • 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: MYO1E: 2383G>A; G795R
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry
Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE
Publication Date: 2016-12

Variant appearance in text: MYO1E: G795R; rs180951130
PubMed Link: 27001614
Variant Present in the following documents:
  • NIHMS753666-supplement-2.xlsx, sheet 5
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs180951130
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: MYO1E: G795R
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page