COL4A2 c.4195G>A ;(p.V1399I)

Variant ID: 13-111156250-G-A

NM_001846.2(COL4A2):c.4195G>A;(p.V1399I)

This variant was identified in 17 publications

View GRCh38 version.




Publications:


Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE
Publication Date: 2022-11-15

Variant appearance in text: COL4A2: 4195G>A; Val1399Ile
PubMed Link: 36350923
Variant Present in the following documents:
  • pnas.2203491119.sd01.xlsx, sheet 1
View BVdb publication page



Integrated DNA and RNA Sequencing Reveals Drivers of Endocrine Resistance in Estrogen Receptor-Positive Breast Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Xia, Youli Y; He, Xiaping X; Renshaw, Lorna L; Martinez-Perez, Carlos C; Kay, Charlene C; Gray, Mark M; Meehan, James J; Parker, Joel S JS; Perou, Charles M CM; Carey, Lisa A LA; Dixon, J Michael JM; Turnbull, Arran A
Publication Date: 2022-08-15

Variant appearance in text: COL4A2: V1399I; rs45520539
PubMed Link: 35653148
Variant Present in the following documents:
  • ccr-21-3189_supplementary_tables_ts1-9_suppts1-9.xlsx, sheet 5
View BVdb publication page



SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications
Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X
Publication Date: 2022-02-08

Variant appearance in text: COL4A2: V1399I
PubMed Link: 35136070
Variant Present in the following documents:
  • 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Proteogenomic Landscape of Breast Cancer Tumorigenesis and Targeted Therapy.

Cell
Krug, Karsten K; Jaehnig, Eric J EJ; Satpathy, Shankha S; Blumenberg, Lili L; Karpova, Alla A; Anurag, Meenakshi M; Miles, George G; Mertins, Philipp P; Geffen, Yifat Y; Tang, Lauren C LC; Heiman, David I DI; Cao, Song S; Maruvka, Yosef E YE; Lei, Jonathan T JT; Huang, Chen C; Kothadia, Ramani B RB; Colaprico, Antonio A; Birger, Chet C; Wang, Jarey J; Dou, Yongchao Y; Wen, Bo B; Shi, Zhiao Z; Liao, Yuxing Y; Wiznerowicz, Maciej M; Wyczalkowski, Matthew A MA; Chen, Xi Steven XS; Kennedy, Jacob J JJ; Paulovich, Amanda G AG; Thiagarajan, Mathangi M; Kinsinger, Christopher R CR; Hiltke, Tara T; Boja, Emily S ES; Mesri, Mehdi M; Robles, Ana I AI; Rodriguez, Henry H; Westbrook, Thomas F TF; Ding, Li L; Getz, Gad G; Clauser, Karl R KR; Fenyö, David D; Ruggles, Kelly V KV; Zhang, Bing B; Mani, D R DR; Carr, Steven A SA; Ellis, Matthew J MJ; Gillette, Michael A MA; ,
Publication Date: 2020-11-25

Variant appearance in text: COL4A2: V1399I
PubMed Link: 33212010
Variant Present in the following documents:
  • NIHMS1687926-supplement-Supplemental_Table_3.xlsx, sheet 5
View BVdb publication page



Genomic analysis of 21 patients with corneal neuralgia after refractive surgery.

Pain Reports
Yuan, Jun-Hui JH; Schulman, Betsy R BR; Effraim, Philip R PR; Sulayman, Dib-Hajj DH; Jacobs, Deborah S DS; Waxman, Stephen G SG
Publication Date: 2020

Variant appearance in text: COL4A2: V1399I
PubMed Link: 32766464
Variant Present in the following documents:
  • painreports-5-e826.pdf
View BVdb publication page



Cancer neoantigen prioritization through sensitive and reliable proteogenomics analysis.

Nature Communications
Wen, Bo B; Li, Kai K; Zhang, Yun Y; Zhang, Bing B
Publication Date: 2020-04-09

Variant appearance in text: COL4A2: V1399I
PubMed Link: 32273506
Variant Present in the following documents:
  • 41467_2020_15456_MOESM6_ESM.xlsx, sheet 1
  • 41467_2020_15456_MOESM4_ESM.xlsx, sheet 1
  • 41467_2020_15456_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Association of variants in HTRA1 and NOTCH3 with MRI-defined extremes of cerebral small vessel disease in older subjects.

Brain : A Journal Of Neurology
Mishra, Aniket A; Chauhan, Ganesh G; Violleau, Marie-Helene MH; Vojinovic, Dina D; Jian, Xueqiu X; Bis, Joshua C JC; Li, Shuo S; Saba, Yasaman Y; Grenier-Boley, Benjamin B; Yang, Qiong Q; Bartz, Traci M TM; Hofer, Edith E; Soumaré, Aïcha A; Peng, Fen F; Duperron, Marie-Gabrielle MG; Foglio, Mario M; Mosley, Thomas H TH; Schmidt, Reinhold R; Psaty, Bruce M BM; Launer, Lenore J LJ; Boerwinkle, Eric E; Zhu, Yicheng Y; Mazoyer, Bernard B; Lathrop, Mark M; Bellenguez, Celine C; Van Duijn, Cornelia M CM; Ikram, M Arfan MA; Schmidt, Helena H; Longstreth, W T WT; Fornage, Myriam M; Seshadri, Sudha S; Joutel, Anne A; Tzourio, Christophe C; Debette, Stephanie S
Publication Date: 2019-04-01

Variant appearance in text: COL4A2: V1399I
PubMed Link: 30859180
Variant Present in the following documents:
  • awz024_supplementary_text.pdf
View BVdb publication page



NIPS, a 3D network-integrated predictor of deleterious protein SAPs, and its application in cancer prognosis.

Scientific Reports
Wang, Bo B; Li, Jing J; Cheng, Xi X; Zhou, Qiao Q; Yang, Jingxu J; Zhang, Menghuan M; Chen, Haifeng H; Li, Jing J
Publication Date: 2018-04-16

Variant appearance in text: COL4A2: V1399I; rs45520539
PubMed Link: 29662108
Variant Present in the following documents:
  • 41598_2018_24286_MOESM1_ESM.pdf
View BVdb publication page



Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine
Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T
Publication Date: 2017-07-18

Variant appearance in text: COL4A2: V1399I; rs45520539
PubMed Link: 28716134
Variant Present in the following documents:
  • 13073_2017_454_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25

Variant appearance in text: COL4A2: V1399I; rs45520539
PubMed Link: 28440294
Variant Present in the following documents:
  • srep46105-s2.xls, sheet 9
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: COL4A2: V1399I
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports
Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R
Publication Date: 2015-03-16

Variant appearance in text: COL4A2: V1399I; rs45520539
PubMed Link: 25773295
Variant Present in the following documents:
  • srep09124-s3.xls, sheet 1
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: COL4A2: V1399I; rs45520539
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research
Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR
Publication Date: 2014-12-16

Variant appearance in text: COL4A2: V1399I; rs45520539
PubMed Link: 25352556
Variant Present in the following documents:
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 7
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 5
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 13
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 2
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 12
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 23
View BVdb publication page



NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014

Variant appearance in text: COL4A2: V1399I; rs45520539
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
View BVdb publication page



COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke.

American Journal Of Human Genetics
Jeanne, Marion M; Labelle-Dumais, Cassandre C; Jorgensen, Jeff J; Kauffman, W Berkeley WB; Mancini, Grazia M GM; Favor, Jack J; Valant, Valerie V; Greenberg, Steven M SM; Rosand, Jonathan J; Gould, Douglas B DB
Publication Date: 2012-01-13

Variant appearance in text: COL4A2: 4195G>A; Val1399Ile
PubMed Link: 22209247
Variant Present in the following documents:
  • Main text
View BVdb publication page