PRODH c.1414G>A ;(p.A472T)

Variant ID: 22-18905842-C-T

NM_016335.4(PRODH):c.1414G>A;(p.A472T)

This variant was identified in 19 publications

View GRCh38 version.




Publications:


Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: rs2870983
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Integrative proteomic characterization of adenocarcinoma of esophagogastric junction.

Nature Communications
Li, Shengli S; Yuan, Li L; Xu, Zhi-Yuan ZY; Xu, Jing-Li JL; Chen, Gui-Ping GP; Guan, Xiaoqing X; Pan, Guang-Zhao GZ; Hu, Can C; Dong, Jinyun J; Du, Yi-An YA; Yang, Li-Tao LT; Ni, Mao-Wei MW; Jiang, Rui-Bin RB; Zhu, Xiu X; Lv, Hang H; Xu, Han-Dong HD; Zhang, Sheng-Jie SJ; Qin, Jiang-Jiang JJ; Cheng, Xiang-Dong XD
Publication Date: 2023-02-11

Variant appearance in text: PRODH: 1414G>A; Ala472Thr; rs2870983
PubMed Link: 36774361
Variant Present in the following documents:
  • 41467_2023_36462_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



A stop-gain mutation in GXYLT1 promotes metastasis of colorectal cancer via the MAPK pathway.

Cell Death & Disease
Peng, Lin L; Zhao, Min M; Liu, Tianqi T; Chen, Jiangbo J; Gao, Pin P; Chen, Lei L; Xing, Pu P; Wang, Zaozao Z; Di, Jiabo J; Xu, Qiang Q; Qu, Hong H; Jiang, Beihai B; Su, Xiangqian X
Publication Date: 2022-04-22

Variant appearance in text: PRODH: A472T
PubMed Link: 35459861
Variant Present in the following documents:
  • 41419_2022_4844_MOESM4_ESM.xlsx, sheet 3
View BVdb publication page



Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp
Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC
Publication Date: 2021

Variant appearance in text: PRODH: A472T; rs2870983
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 11
  • mmc2.xlsx, sheet 3
View BVdb publication page



Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp
Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC
Publication Date: 2021-10-19

Variant appearance in text: PRODH: A472T; rs2870983
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 11
  • mmc2.xlsx, sheet 3
View BVdb publication page



Hyperprolinemia type I caused by homozygous p.T466M mutation in PRODH.

Human Genome Variation
Hama, Rina R; Kido, Jun J; Sugawara, Keishin K; Nakamura, Toshiro T; Nakamura, Kimitoshi K
Publication Date: 2021-07-20

Variant appearance in text: PRODH: 1414G>A; A472T; rs2870983
PubMed Link: 34285201
Variant Present in the following documents:
  • Main text
  • 41439_2021_Article_159.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: PRODH: A472T
PubMed Link: 32273506
Variant Present in the following documents:
  • 41467_2020_15456_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20

Variant appearance in text: rs2870983
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Integrative molecular profiling identifies a novel cluster of estrogen receptor-positive breast cancer in very young women.

Cancer Science
Park, Charny C; Yoon, Kyong-Ah KA; Kim, Jihyun J; Park, In Hae IH; Park, Soo Jin SJ; Kim, Min Kyeong MK; Jang, Wooyeong W; Cho, Soo Young SY; Park, Boyoung B; Kong, Sun-Young SY; Lee, Eun Sook ES
Publication Date: 2019-05

Variant appearance in text: PRODH: 1414G>A; rs2870983
PubMed Link: 30811755
Variant Present in the following documents:
  • CAS-110-1760-s002.xlsx, sheet 2
View BVdb publication page



Risk gene-set and pathways in 22q11.2 deletion-related schizophrenia: a genealogical molecular approach.

Translational Psychiatry
Michaelovsky, Elena E; Carmel, Miri M; Frisch, Amos A; Salmon-Divon, Mali M; Pasmanik-Chor, Metsada M; Weizman, Abraham A; Gothelf, Doron D
Publication Date: 2019-01-17

Variant appearance in text: rs2870983
PubMed Link: 30710087
Variant Present in the following documents:
  • Main text
  • 41398_2018_Article_354.pdf
View BVdb publication page



The chronological sequence of somatic mutations in early gastric carcinogenesis inferred from multiregion sequencing of gastric adenomas.

Oncotarget
Lim, Chul-Hyun CH; Cho, Yu Kyung YK; Kim, Sang Woo SW; Choi, Myung-Gyu MG; Rhee, Je-Keun JK; Chung, Yeun-Jun YJ; Lee, Sug-Hyung SH; Kim, Tae-Min TM
Publication Date: 2016-06-28

Variant appearance in text: PRODH: A472T
PubMed Link: 27175599
Variant Present in the following documents:
  • oncotarget-07-39758-s006.xlsx, sheet 1
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs2870983
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
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: rs2870983
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: PRODH: A472T; rs2870983
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: rs2870983
PubMed Link: 25352556
Variant Present in the following documents:
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 12
View BVdb publication page



PRODH polymorphisms, cortical volumes and thickness in schizophrenia.

Plos One
Ota, Vanessa K VK; Bellucco, Fernanda T FT; Gadelha, Ary A; Santoro, Marcos L ML; Noto, Cristiano C; Christofolini, Denise M DM; Assunção, Idaiane B IB; Yamada, Karen M KM; Ribeiro-dos-Santos, Andrea K AK; Santos, Sidney S; Mari, Jair J JJ; Smith, Marília A C MA; Melaragno, Maria I MI; Bressan, Rodrigo A RA; Sato, João R JR; Jackowski, Andrea P AP; Belangero, Sintia I SI
Publication Date: 2014

Variant appearance in text: rs2870983
PubMed Link: 24498354
Variant Present in the following documents:
  • Main text
  • pone.0087686.pdf
View BVdb publication page



Executive function, neural circuitry, and genetic mechanisms in schizophrenia.

Neuropsychopharmacology : Official Publication Of The American College Of Neuropsychopharmacology
Eisenberg, Daniel Paul DP; Berman, Karen Faith KF
Publication Date: 2010-01

Variant appearance in text: rs2870983
PubMed Link: 19693005
Variant Present in the following documents:
  • Main text
View BVdb publication page



Functional polymorphisms in PRODH are associated with risk and protection for schizophrenia and fronto-striatal structure and function.

Plos Genetics
Kempf, Lucas L; Nicodemus, Kristin K KK; Kolachana, Bhaskar B; Vakkalanka, Radhakrishna R; Verchinski, Beth A BA; Egan, Michael F MF; Straub, Richard E RE; Mattay, Venkata A VA; Callicott, Joseph H JH; Weinberger, Daniel R DR; Meyer-Lindenberg, Andreas A
Publication Date: 2008-11

Variant appearance in text: PRODH: A472T; rs2870983
PubMed Link: 18989458
Variant Present in the following documents:
  • Main text
  • pgen.1000252.pdf
View BVdb publication page



Functional genomics and SNP analysis of human genes encoding proline metabolic enzymes.

Amino Acids
Hu, Chien-An A CA; Bart Williams, D D; Zhaorigetu, Siqin S; Khalil, Shadi S; Wan, Guanghua G; Valle, David D
Publication Date: 2008-11

Variant appearance in text: PRODH1: A472T
PubMed Link: 18506409
Variant Present in the following documents:
  • Main text
View BVdb publication page



Functional consequences of PRODH missense mutations.

American Journal Of Human Genetics
Bender, Hans-Ulrich HU; Almashanu, Shlomo S; Steel, Gary G; Hu, Chien-An CA; Lin, Wei-Wen WW; Willis, Alecia A; Pulver, Ann A; Valle, David D
Publication Date: 2005-03

Variant appearance in text: PRODH: A472T
PubMed Link: 15662599
Variant Present in the following documents:
  • Main text
View BVdb publication page