ALB c.1195G>A ;(p.D399N)

Variant ID: 4-74281976-G-A

NM_000477.5(ALB):c.1195G>A;(p.D399N)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Integrated genomic analyses of acral and mucosal melanomas nominate novel driver genes.

Genome Medicine
Wang, Meng M; Banik, Ishani I; Shain, A Hunter AH; Yeh, Iwei I; Bastian, Boris C BC
Publication Date: 2022-06-16

Variant appearance in text: ALB: D399N
PubMed Link: 35706047
Variant Present in the following documents:
  • 13073_2022_1068_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Systematic review and meta-analysis of genomic alterations in acral melanoma.

Pigment Cell & Melanoma Research
Broit, Natasa N; Johansson, Peter A PA; Rodgers, Chloe B CB; Walpole, Sebastian T ST; Hayward, Nicholas K NK; Pritchard, Antonia L AL
Publication Date: 2022-05

Variant appearance in text: ALB: 1195G>A; Asp399Asn; rs77514449
PubMed Link: 35229492
Variant Present in the following documents:
  • PCMR-35-369-s003.xlsx, sheet 6
View BVdb publication page



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>A; Asp399Asn
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>A; Asp399Asn
PubMed Link: 35163085
Variant Present in the following documents:
  • Main text
  • ijms-23-01159.pdf
View BVdb publication page



Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature
Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E
Publication Date: 2019-11

Variant appearance in text: ALB: Asp399Asn
PubMed Link: 31645765
Variant Present in the following documents:
  • 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1
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



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: ALB: D399N
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: rs77514449
PubMed Link: 23555315
Variant Present in the following documents:
  • pgen.1003419.s009.xlsx, sheet 1
View BVdb publication page