TPK1 c.164T>C ;(p.I55T)

Variant ID: 7-144380023-A-G

NM_022445.3(TPK1):c.164T>C;(p.I55T)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Automated optimisation of solubility and conformational stability of antibodies and proteins.

Nature Communications
Rosace, Angelo A; Bennett, Anja A; Oeller, Marc M; Mortensen, Mie M MM; Sakhnini, Laila L; Lorenzen, Nikolai N; Poulsen, Christian C; Sormanni, Pietro P
Publication Date: 2023-04-06

Variant appearance in text: TPK1: I55T
PubMed Link: 37024501
Variant Present in the following documents:
  • 41467_2023_37668_MOESM13_ESM.xlsx, sheet 1
View BVdb publication page



Genetic variants in African-American and Hispanic patients with breast cancer.

Oncology Letters
Dutta, Pranabananda P; Keung, Man Y MY; Wu, Yanyuan Y; Vadgama, Jaydutt V JV
Publication Date: 2023-02

Variant appearance in text: TPK1: 164T>C; I55T
PubMed Link: 36644153
Variant Present in the following documents:
  • Supplementary_Data5.xlsx, sheet 1
View BVdb publication page



Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: TPK1: I55T; rs373745325
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Toward Developing Intuitive Rules for Protein Variant Effect Prediction Using Deep Mutational Scanning Data.

Acs Omega
Sruthi, Cheloor Kovilakam CK; Balaram, Hemalatha H; Prakash, Meher K MK
Publication Date: 2020-11-24

Variant appearance in text: TPK1: I55T
PubMed Link: 33251402
Variant Present in the following documents:
  • ao0c02402_si_002.xls, sheet 2
View BVdb publication page



Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Nature Communications
Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H
Publication Date: 2019-09-12

Variant appearance in text: TPK1: 164T>C; I55T; rs373745325
PubMed Link: 31515488
Variant Present in the following documents:
  • 41467_2019_11959_MOESM11_ESM.xlsx, sheet 1
  • 41467_2019_11959_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page