ALB c.1195G>C ;(p.D399H)

Variant ID: 4-74281976-G-C

NM_000477.5(ALB):c.1195G>C;(p.D399H)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Comparative genomics of primary prostate cancer and paired metastases: insights from 12 molecular case studies.

The Journal Of Pathology
Cyrta, Joanna J; Prandi, Davide D; Arora, Arshi A; Hovelson, Daniel H DH; Sboner, Andrea A; Rodriguez, Antonio A; Fedrizzi, Tarcisio T; Beltran, Himisha H; Robinson, Dan R DR; Gopalan, Anuradha A; True, Lawrence L; Nelson, Peter S PS; Robinson, Brian D BD; Mosquera, Juan Miguel JM; Tomlins, Scott A SA; Shen, Ronglai R; Demichelis, Francesca F; Rubin, Mark A MA
Publication Date: 2022-07

Variant appearance in text: rs77514449
PubMed Link: 35220606
Variant Present in the following documents:
  • PATH-257-274-s001.xlsx, sheet 4
View BVdb publication page



Variations in the Human Serum Albumin Gene: Molecular and Functional Aspects.

International Journal Of Molecular Sciences
Caridi, Gianluca G; Lugani, Francesca F; Angeletti, Andrea A; Campagnoli, Monica M; Galliano, Monica M; Minchiotti, Lorenzo L
Publication Date: 2022-01-21

Variant appearance in text: ALB: 1195G>C; Asp399His
PubMed Link: 35163085
Variant Present in the following documents:
  • Main text
  • ijms-23-01159.pdf
View BVdb publication page



Variations in the Human Serum Albumin Gene: Molecular and Functional Aspects.

International Journal Of Molecular Sciences
Caridi, Gianluca G; Lugani, Francesca F; Angeletti, Andrea A; Campagnoli, Monica M; Galliano, Monica M; Minchiotti, Lorenzo L
Publication Date: 2022-01-21

Variant appearance in text: ALB: 1195G>C; Asp399His
PubMed Link: 35163085
Variant Present in the following documents:
  • Main text
  • ijms-23-01159.pdf
View BVdb publication page



Alternative assembly of respiratory complex II connects energy stress to metabolic checkpoints.

Nature Communications
Bezawork-Geleta, Ayenachew A; Wen, He H; Dong, LanFeng L; Yan, Bing B; Vider, Jelena J; Boukalova, Stepana S; Krobova, Linda L; Vanova, Katerina K; Zobalova, Renata R; Sobol, Margarita M; Hozak, Pavel P; Novais, Silvia Magalhaes SM; Caisova, Veronika V; Abaffy, Pavel P; Naraine, Ravindra R; Pang, Ying Y; Zaw, Thiri T; Zhang, Ping P; Sindelka, Radek R; Kubista, Mikael M; Zuryn, Steven S; Molloy, Mark P MP; Berridge, Michael V MV; Pacak, Karel K; Rohlena, Jakub J; Park, Sunghyouk S; Neuzil, Jiri J
Publication Date: 2018-06-07

Variant appearance in text: rs77514449
PubMed Link: 29880867
Variant Present in the following documents:
  • 41467_2018_4603_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Discovery of coding regions in the human genome by integrated proteogenomics analysis workflow.

Nature Communications
Zhu, Yafeng Y; Orre, Lukas M LM; Johansson, Henrik J HJ; Huss, Mikael M; Boekel, Jorrit J; Vesterlund, Mattias M; Fernandez-Woodbridge, Alejandro A; Branca, Rui M M RMM; Lehtiƶ, Janne J
Publication Date: 2018-03-02

Variant appearance in text: rs77514449
PubMed Link: 29500430
Variant Present in the following documents:
  • 41467_2018_3311_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



PECAN: library-free peptide detection for data-independent acquisition tandem mass spectrometry data.

Nature Methods
Ting, Ying S YS; Egertson, Jarrett D JD; Bollinger, James G JG; Searle, Brian C BC; Payne, Samuel H SH; Noble, William Stafford WS; MacCoss, Michael J MJ
Publication Date: 2017-09

Variant appearance in text: rs77514449
PubMed Link: 28783153
Variant Present in the following documents:
  • NIHMS893716-supplement-2.pdf
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: rs77514449
PubMed Link: 23555315
Variant Present in the following documents:
  • pgen.1003419.s009.xlsx, sheet 1
View BVdb publication page