RET c.2881T>C ;(p.F961L)

Variant ID: 10-43619198-T-C

NM_020975.4(RET):c.2881T>C;(p.F961L)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Comprehensive Assessment of Indian Variations in the Druggable Kinome Landscape Highlights Distinct Insights at the Sequence, Structure and Pharmacogenomic Stratum.

Frontiers In Pharmacology
Panda, Gayatri G; Mishra, Neha N; Sharma, Disha D; Kutum, Rintu R; Bhoyar, Rahul C RC; Jain, Abhinav A; Imran, Mohamed M; Senthilvel, Vigneshwar V; Divakar, Mohit Kumar MK; Mishra, Anushree A; Garg, Parth P; Banerjee, Priyanka P; Sivasubbu, Sridhar S; Scaria, Vinod V; Ray, Arjun A
Publication Date: 2022

Variant appearance in text: RET: F961L
PubMed Link: 35865963
Variant Present in the following documents:
  • Table12.xlsx, sheet 1
View BVdb publication page



Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: RET: F961L
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: RET: F961L
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s4.xls, sheet 1
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: HSCR1: F961L
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: RET: F961L
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



RET mutational spectrum in Hirschsprung disease: evaluation of 601 Chinese patients.

Plos One
So, Man-Ting MT; Leon, Thomas Yuk-Yu TY; Cheng, Guo G; Tang, Clara Sze-Man CS; Miao, Xiao-Ping XP; Cornes, Belinda K BK; Diem, Ngoc Ngo NN; Cui, Long L; Ngan, Elly Sau-Wai ES; Lui, Vincent Chai-Hang VC; Wu, Xuan-Zhao XZ; Wang, Bin B; Wang, Hualong H; Yuan, Zheng-Wei ZW; Huang, Liu-Ming LM; Li, Long L; Xia, Huimin H; Zhu, Deli D; Liu, Juncheng J; Nguyen, Thanh Liem TL; Chan, Ivy Hau-Yee IH; Chung, Patrick Ho-Yu PH; Liu, Xue-Lai XL; Zhang, Ruizhong R; Wong, Kenneth Kak-Yuen KK; Sham, Pak-Chung PC; Cherny, Stacey S SS; Tam, Paul Kwong-Hang PK; Garcia-Barcelo, Maria-Mercè MM
Publication Date: 2011

Variant appearance in text: RET: F961L
PubMed Link: 22174939
Variant Present in the following documents:
  • Main text
  • pone.0028986.pdf
View BVdb publication page