SHC1 c.614C>T ;(p.A205V)

Variant ID: 1-154941263-G-A

NM_001130040.1(SHC1):c.614C>T;(p.A205V)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: SHC1: A205V; rs8191981
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Integrative single-cell analysis reveals transcriptional and epigenetic regulatory features of clear cell renal cell carcinoma.

Cancer Research
Yu, Zhenyuan Z; Lv, Yufang Y; Su, Cheng C; Lu, Wenhao W; Zhang, RuiRui R; Li, Jiaping J; Guo, Bingqian B; Yan, Haibiao H; Liu, Deyun D; Yang, Zhanbin Z; Mi, Hua H; Mo, Linjian L; Guo, Yi Y; Feng, Wenyu W; Xu, Haotian H; Peng, Wenyi W; Cheng, Jiwen J; Nan, Aruo A; Mo, Zengnan Z
Publication Date: 2023-01-06

Variant appearance in text: SHC1: A205V; rs8191981
PubMed Link: 36607615
Variant Present in the following documents:
  • can-22-2224_table_s8_suppst8.xlsx, sheet 4
  • can-22-2224_table_s8_suppst8.xlsx, sheet 5
  • can-22-2224_table_s8_suppst8.xlsx, sheet 6
  • can-22-2224_table_s8_suppst8.xlsx, sheet 7
View BVdb publication page



Cytokine pathway variants modulate platelet production: IFNA16 is a thrombocytosis susceptibility locus in humans.

Blood Advances
Gnatenko, Dmitri V DV; Liu, Zhaoyan Z; Hearing, Patrick P; Sohn, Sook-Young SY; Hu, Yetao Y; Falanga, Anna A; Wu, Song S; Malone, Lisa E LE; Zhu, Wei W; Bahou, Wadie F WF
Publication Date: 2022-08-23

Variant appearance in text: rs8191981
PubMed Link: 35381074
Variant Present in the following documents:
  • advancesADV2021005648-suppl1.pdf
View BVdb publication page



Circulating white blood cells and lung function impairment: the observational studies and Mendelian randomization analysis.

Annals Of Medicine
Wu, Xiulong X; Wang, Chenming C; Li, Hang H; Meng, Hua H; Jie, Jiali J; Fu, Ming M; Bai, Yansen Y; Li, Guyanan G; Wei, Wei W; Feng, Yue Y; Li, Mengying M; Guan, Xin X; He, Meian M; Zhang, Xiaomin X; Guo, Huan H
Publication Date: 2021-12

Variant appearance in text: rs8191981
PubMed Link: 34259107
Variant Present in the following documents:
  • IANN_A_1948603_SM3508.pdf
View BVdb publication page



Somatic Mutation Profiling of Papillary Thyroid Carcinomas by Whole-exome Sequencing and Its Relationship with Clinical Characteristics.

International Journal Of Medical Sciences
Qi, Tingyue T; Rong, Xin X; Feng, Qingling Q; Sun, Hongguang H; Cao, Haiyan H; Yang, Yan Y; Feng, Hao H; Zhu, Linhai L; Wang, Lei L; Du, Qiu Q
Publication Date: 2021

Variant appearance in text: SHC1: 614C>T; Ala205Val; rs8191981
PubMed Link: 34104084
Variant Present in the following documents:
  • ijmsv18p2532s2.xlsx, sheet 1
View BVdb publication page



Dysregulation of neuron differentiation in an autistic savant with exceptional memory.

Molecular Brain
Song, Jinjing J; Yang, Xiujuan X; Zhou, Ying Y; Chen, Lei L; Zhang, Xu X; Liu, Zhuxi Z; Niu, Weibo W; Zhan, Nengpeng N; Fan, Xuelian X; Khan, Abdul Aziz AA; Kuang, Yifang Y; Song, Lulu L; He, Guang G; Li, Weidong W
Publication Date: 2019-11-07

Variant appearance in text: SHC1: A205V; rs8191981
PubMed Link: 31699123
Variant Present in the following documents:
  • 13041_2019_507_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine
Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A
Publication Date: 2019-06-28

Variant appearance in text: SHC1: A205V
PubMed Link: 31253177
Variant Present in the following documents:
  • 13073_2019_654_MOESM2_ESM.xlsx, sheet 52
  • 13073_2019_654_MOESM2_ESM.xlsx, sheet 50
View BVdb publication page



Targetable vulnerabilities in T- and NK-cell lymphomas identified through preclinical models.

Nature Communications
Ng, Samuel Y SY; Yoshida, Noriaki N; Christie, Amanda L AL; Ghandi, Mahmoud M; Dharia, Neekesh V NV; Dempster, Joshua J; Murakami, Mark M; Shigemori, Kay K; Morrow, Sara N SN; Van Scoyk, Alexandria A; Cordero, Nicolas A NA; Stevenson, Kristen E KE; Puligandla, Maneka M; Haas, Brian B; Lo, Christopher C; Meyers, Robin R; Gao, Galen G; Cherniack, Andrew A; Louissaint, Abner A; Nardi, Valentina V; Thorner, Aaron R AR; Long, Henry H; Qiu, Xintao X; Morgan, Elizabeth A EA; Dorfman, David M DM; Fiore, Danilo D; Jang, Julie J; Epstein, Alan L AL; Dogan, Ahmet A; Zhang, Yanming Y; Horwitz, Steven M SM; Jacobsen, Eric D ED; Santiago, Solimar S; Ren, Jian-Guo JG; Guerlavais, Vincent V; Annis, D Allen DA; Aivado, Manuel M; Saleh, Mansoor N MN; Mehta, Amitkumar A; Tsherniak, Aviad A; Root, David D; Vazquez, Francisca F; Hahn, William C WC; Inghirami, Giorgio G; Aster, Jon C JC; Weinstock, David M DM; Koch, Raphael R
Publication Date: 2018-05-22

Variant appearance in text: SHC1: 614C>T; A205V
PubMed Link: 29789628
Variant Present in the following documents:
  • 41467_2018_4356_MOESM11_ESM.xlsx, sheet 18
View BVdb publication page



Heritable, Allele-Specific Chromosomal Looping between Tandem Promoters Specifies Promoter Usage of SHC1.

Molecular And Cellular Biology
Li, Xichuan X; Lin, Zhenzhen Z; Wang, Hao H; Zhao, Dan D; Xu, Xing X; Wei, Yiliang Y; Li, Xiaoting X; Li, Xiaobo X; Xiang, Yougui Y; Terada, Lance S LS; Liu, Zhe Z
Publication Date: 2018-05-01

Variant appearance in text: rs8191981
PubMed Link: 29440311
Variant Present in the following documents:
  • Main text
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: rs8191981
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: SHC1: A205V
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page



Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.

Plos Genetics
Haiman, Christopher A CA; Han, Ying Y; Feng, Ye Y; Xia, Lucy L; Hsu, Chris C; Sheng, Xin X; Pooler, Loreall C LC; Patel, Yesha Y; Kolonel, Laurence N LN; Carter, Erin E; Park, Karen K; Le Marchand, Loic L; Van Den Berg, David D; Henderson, Brian E BE; Stram, Daniel O DO
Publication Date: 2013-03

Variant appearance in text: rs8191981
PubMed Link: 23555315
Variant Present in the following documents:
  • pgen.1003419.s009.xlsx, sheet 1
View BVdb publication page