ANG c.122A>T ;(p.K41I)

Variant ID: 14-21161845-A-T

NM_001097577.2(ANG):c.122A>T;(p.K41I)

This variant was identified in 27 publications

View GRCh38 version.




Publications:


A bipartite graph-based expected networks approach identifies DDR genes not associated with TMB yet predictive of immune checkpoint blockade response.

Cell Reports. Medicine
Weir, William H WH; Mucha, Peter J PJ; Kim, William Y WY
Publication Date: 2022-05-17

Variant appearance in text: ANG: 122A>T; Lys41Ile
PubMed Link: 35584624
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page



Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience
Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD
Publication Date: 2022-02

Variant appearance in text: ANG: K41I; rs121909536
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 3
View BVdb publication page



Role of genetics in amyotrophic lateral sclerosis: a large cohort study in Chinese mainland population.

Journal Of Medical Genetics
Chen, Yong-Ping YP; Yu, Shi-Hui SH; Wei, Qian-Qian QQ; Cao, Bei B; Gu, Xiao-Jing XJ; Chen, Xue-Ping XP; Song, Wei W; Zhao, Bi B; Wu, Ying Y; Sun, Ming-Ming MM; Liu, Fei-Fei FF; Hou, Yan-Bing YB; Ou, Ru-Wei RW; Zhang, Ling-Yu LY; Liu, Kun-Cheng KC; Lin, Jun-Yu JY; Xu, Xin-Ran XR; Li, Chun-Yu CY; Yang, Jing J; Jiang, Zheng Z; Liu, Jiao J; Cheng, Yang-Fan YF; Xiao, Yi Y; Chen, Ke K; Feng, Fei F; Cai, Ying-Ying YY; Li, Shi-Rong SR; Hu, Tao T; Yuan, Xiao-Qin XQ; Guo, Xiao-Yan XY; Liu, Hui H; Han, Qing Q; Zhou, Qing-Qing QQ; Shao, Na N; Li, Jian-Peng JP; Pan, Ping-Lei PL; Ma, Sha S; Shang, Hui-Fang HF
Publication Date: 2022-09

Variant appearance in text: ANG: 122A>T; Lys41Ile
PubMed Link: 34544842
Variant Present in the following documents:
  • jmedgenet-2021-107965supp003.pdf
View BVdb publication page



Assessment of ANG variants in Parkinson's disease.

Neurobiology Of Aging
Grenn, Francis P FP; Moore, Anni A; Bandres-Ciga, Sara S; Krohn, Lynne L; Blauwendraat, Cornelis C; ,
Publication Date: 2021-08

Variant appearance in text: ANG: K41I; rs121909536
PubMed Link: 33875291
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: ANG: K41I
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09

Variant appearance in text: ANG: 122A>T; Lys41Ile; rs121909536
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
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: ANG: K41I
PubMed Link: 32273506
Variant Present in the following documents:
  • 41467_2020_15456_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature
,
Publication Date: 2019-12

Variant appearance in text: ANG: 122A>T; Lys41Ile; rs121909536
PubMed Link: 31802016
Variant Present in the following documents:
  • 41586_2019_1793_MOESM3_ESM.xlsx, sheet 15
  • 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14
View BVdb publication page



Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07

Variant appearance in text: ANG: K41I; rs121909536
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Whole exome sequencing and DNA methylation analysis in a clinical amyotrophic lateral sclerosis cohort.

Molecular Genetics & Genomic Medicine
Garton, Fleur C FC; Benyamin, Beben B; Zhao, Qiongyi Q; Liu, Zhijun Z; Gratten, Jacob J; Henders, Anjali K AK; Zhang, Zong-Hong ZH; Edson, Janette J; Furlong, Sarah S; Morgan, Sarah S; Heggie, Susan S; Thorpe, Kathryn K; Pfluger, Casey C; Mather, Karen A KA; Sachdev, Perminder S PS; McRae, Allan F AF; Robinson, Matthew R MR; Shah, Sonia S; Visscher, Peter M PM; Mangelsdorf, Marie M; Henderson, Robert D RD; Wray, Naomi R NR; McCombe, Pamela A PA
Publication Date: 2017-07

Variant appearance in text: ANG: 122A>T; Lys41Ile; rs121909536
PubMed Link: 28717666
Variant Present in the following documents:
  • MGG3-5-418-s001.xlsx, sheet 3
View BVdb publication page



A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK.

Brain : A Journal Of Neurology
Morgan, Sarah S; Shatunov, Aleksey A; Sproviero, William W; Jones, Ashley R AR; Shoai, Maryam M; Hughes, Deborah D; Al Khleifat, Ahmad A; Malaspina, Andrea A; Morrison, Karen E KE; Shaw, Pamela J PJ; Shaw, Christopher E CE; Sidle, Katie K; Orrell, Richard W RW; Fratta, Pietro P; Hardy, John J; Pittman, Alan A; Al-Chalabi, Ammar A
Publication Date: 2017-06-01

Variant appearance in text: ANG: K41I; rs121909536
PubMed Link: 28430856
Variant Present in the following documents:
  • Main text
  • awx082.pdf
View BVdb publication page



Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource.

Genome Research
Keogh, Michael J MJ; Wei, Wei W; Wilson, Ian I; Coxhead, Jon J; Ryan, Sarah S; Rollinson, Sara S; Griffin, Helen H; Kurzawa-Akanbi, Marzena M; Santibanez-Koref, Mauro M; Talbot, Kevin K; Turner, Martin R MR; McKenzie, Chris-Anne CA; Troakes, Claire C; Attems, Johannes J; Smith, Colin C; Al Sarraj, Safa S; Morris, Chris M CM; Ansorge, Olaf O; Pickering-Brown, Stuart S; Ironside, James W JW; Chinnery, Patrick F PF
Publication Date: 2017-01

Variant appearance in text: ANG: K41I
PubMed Link: 28003435
Variant Present in the following documents:
  • supp_gr.210609.116_Supplemental_Variant_data.xlsx, sheet 5
View BVdb publication page



RNAseq Analyses Identify Tumor Necrosis Factor-Mediated Inflammation as a Major Abnormality in ALS Spinal Cord.

Plos One
Brohawn, David G DG; O'Brien, Laura C LC; Bennett, James P JP
Publication Date: 2016

Variant appearance in text: ANG: K41I
PubMed Link: 27487029
Variant Present in the following documents:
  • pone.0160520.s017.xlsx, sheet 1
View BVdb publication page



The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26

Variant appearance in text: ANG: 122A>T; K41I; rs121909536
PubMed Link: 27460824
Variant Present in the following documents:
  • 13073_2016_333_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Proteogenomics connects somatic mutations to signalling in breast cancer.

Nature
Mertins, Philipp P; Mani, D R DR; Ruggles, Kelly V KV; Gillette, Michael A MA; Clauser, Karl R KR; Wang, Pei P; Wang, Xianlong X; Qiao, Jana W JW; Cao, Song S; Petralia, Francesca F; Kawaler, Emily E; Mundt, Filip F; Krug, Karsten K; Tu, Zhidong Z; Lei, Jonathan T JT; Gatza, Michael L ML; Wilkerson, Matthew M; Perou, Charles M CM; Yellapantula, Venkata V; Huang, Kuan-lin KL; Lin, Chenwei C; McLellan, Michael D MD; Yan, Ping P; Davies, Sherri R SR; Townsend, R Reid RR; Skates, Steven J SJ; Wang, Jing J; Zhang, Bing B; Kinsinger, Christopher R CR; Mesri, Mehdi M; Rodriguez, Henry H; Ding, Li L; Paulovich, Amanda G AG; Fenyƶ, David D; Ellis, Matthew J MJ; Carr, Steven A SA; ,
Publication Date: 2016-06-02

Variant appearance in text: ANG: K41I; rs121909536
PubMed Link: 27251275
Variant Present in the following documents:
  • NIHMS778057-supplement-supp_table5.xlsx, sheet 2
View BVdb publication page



Genotype-phenotype relationship in hereditary amyotrophic lateral sclerosis.

Translational Neurodegeneration
Yamashita, Satoshi S; Ando, Yukio Y
Publication Date: 2015

Variant appearance in text: ANG: 122A>T; K41I
PubMed Link: 26213621
Variant Present in the following documents:
  • 40035_2015_36_MOESM1_ESM.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: ANG: K41I
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One
Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E
Publication Date: 2015

Variant appearance in text: rs121909536
PubMed Link: 25807536
Variant Present in the following documents:
  • pone.0121644.s002.xls, sheet 1
View BVdb publication page



Protein domain-level landscape of cancer-type-specific somatic mutations.

Plos Computational Biology
Yang, Fan F; Petsalaki, Evangelia E; Rolland, Thomas T; Hill, David E DE; Vidal, Marc M; Roth, Frederick P FP
Publication Date: 2015-03

Variant appearance in text: ANG: K41I
PubMed Link: 25794154
Variant Present in the following documents:
  • pcbi.1004147.s001.xlsx, sheet 1
View BVdb publication page



Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes.

Annals Of Neurology
Cady, Janet J; Allred, Peggy P; Bali, Taha T; Pestronk, Alan A; Goate, Alison A; Miller, Timothy M TM; Mitra, Robi D RD; Ravits, John J; Harms, Matthew B MB; Baloh, Robert H RH
Publication Date: 2015-01

Variant appearance in text: ANG: 122A>T; K41I; rs121909536
PubMed Link: 25382069
Variant Present in the following documents:
  • Main text
View BVdb publication page



Functional consequences of somatic mutations in cancer using protein pocket-based prioritization approach.

Genome Medicine
Vuong, Huy H; Cheng, Feixiong F; Lin, Chen-Ching CC; Zhao, Zhongming Z
Publication Date: 2014

Variant appearance in text: ANG: K41I
PubMed Link: 25360158
Variant Present in the following documents:
  • 13073_2014_81_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Genetic modifiers in carriers of repeat expansions in the C9ORF72 gene.

Molecular Neurodegeneration
van Blitterswijk, Marka M; Mullen, Bianca B; Wojtas, Aleksandra A; Heckman, Michael G MG; Diehl, Nancy N NN; Baker, Matthew C MC; DeJesus-Hernandez, Mariely M; Brown, Patricia H PH; Murray, Melissa E ME; Hsiung, Ging-Yuek R GY; Stewart, Heather H; Karydas, Anna M AM; Finger, Elizabeth E; Kertesz, Andrew A; Bigio, Eileen H EH; Weintraub, Sandra S; Mesulam, Marsel M; Hatanpaa, Kimmo J KJ; White, Charles L CL; Neumann, Manuela M; Strong, Michael J MJ; Beach, Thomas G TG; Wszolek, Zbigniew K ZK; Lippa, Carol C; Caselli, Richard R; Petrucelli, Leonard L; Josephs, Keith A KA; Parisi, Joseph E JE; Knopman, David S DS; Petersen, Ronald C RC; Mackenzie, Ian R IR; Seeley, William W WW; Grinberg, Lea T LT; Miller, Bruce L BL; Boylan, Kevin B KB; Graff-Radford, Neill R NR; Boeve, Bradley F BF; Dickson, Dennis W DW; Rademakers, Rosa R
Publication Date: 2014-09-20

Variant appearance in text: rs121909536
PubMed Link: 25239657
Variant Present in the following documents:
  • Main text
  • 13024_2014_Article_548.pdf
View BVdb publication page



Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications
Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L
Publication Date: 2014

Variant appearance in text: ANG: K41I
PubMed Link: 24448499
Variant Present in the following documents:
  • NIHMS551112-supplement-4.xlsx, sheet 1
  • NIHMS551112-supplement-9.xlsx, sheet 1
View BVdb publication page



The genetic landscape of high-risk neuroblastoma.

Nature Genetics
Pugh, Trevor J TJ; Morozova, Olena O; Attiyeh, Edward F EF; Asgharzadeh, Shahab S; Wei, Jun S JS; Auclair, Daniel D; Carter, Scott L SL; Cibulskis, Kristian K; Hanna, Megan M; Kiezun, Adam A; Kim, Jaegil J; Lawrence, Michael S MS; Lichenstein, Lee L; McKenna, Aaron A; Pedamallu, Chandra Sekhar CS; Ramos, Alex H AH; Shefler, Erica E; Sivachenko, Andrey A; Sougnez, Carrie C; Stewart, Chip C; Ally, Adrian A; Birol, Inanc I; Chiu, Readman R; Corbett, Richard D RD; Hirst, Martin M; Jackman, Shaun D SD; Kamoh, Baljit B; Khodabakshi, Alireza Hadj AH; Krzywinski, Martin M; Lo, Allan A; Moore, Richard A RA; Mungall, Karen L KL; Qian, Jenny J; Tam, Angela A; Thiessen, Nina N; Zhao, Yongjun Y; Cole, Kristina A KA; Diamond, Maura M; Diskin, Sharon J SJ; Mosse, Yael P YP; Wood, Andrew C AC; Ji, Lingyun L; Sposto, Richard R; Badgett, Thomas T; London, Wendy B WB; Moyer, Yvonne Y; Gastier-Foster, Julie M JM; Smith, Malcolm A MA; Guidry Auvil, Jaime M JM; Gerhard, Daniela S DS; Hogarty, Michael D MD; Jones, Steven J M SJ; Lander, Eric S ES; Gabriel, Stacey B SB; Getz, Gad G; Seeger, Robert C RC; Khan, Javed J; Marra, Marco A MA; Meyerson, Matthew M; Maris, John M JM
Publication Date: 2013-03

Variant appearance in text: ANG: 122A>T; K41I; rs121909536
PubMed Link: 23334666
Variant Present in the following documents:
  • NIHMS474900-supplement-8.xlsx, sheet 1
  • NIHMS474900-supplement-8.xlsx, sheet 2
View BVdb publication page



How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders?

Current Opinion In Neurology
van Blitterswijk, Marka M; DeJesus-Hernandez, Mariely M; Rademakers, Rosa R
Publication Date: 2012-12

Variant appearance in text: ANG: K41I
PubMed Link: 23160421
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic overlap between apparently sporadic motor neuron diseases.

Plos One
van Blitterswijk, Marka M; Vlam, Lotte L; van Es, Michael A MA; van der Pol, W-Ludo WL; Hennekam, Eric A M EA; Dooijes, Dennis D; Schelhaas, Helenius J HJ; van der Kooi, Anneke J AJ; de Visser, Marianne M; Veldink, Jan H JH; van den Berg, Leonard H LH
Publication Date: 2012

Variant appearance in text: ANG: 122A>T
PubMed Link: 23155438
Variant Present in the following documents:
  • Main text
View BVdb publication page