H6PD c.1358G>C ;(p.R453P)

Variant ID: 1-9323910-G-C

NM_004285.3(H6PD):c.1358G>C;(p.R453P)

This variant was identified in 14 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: rs6688832
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: rs6688832
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Global Gene Expression Profiling and Transcription Factor Network Analysis of Cognitive Aging in Monozygotic Twins.

Frontiers In Genetics
Mohammadnejad, Afsaneh A; Li, Weilong W; Lund, Jesper Beltoft JB; Li, Shuxia S; Larsen, Martin J MJ; Mengel-From, Jonas J; Michel, Tanja Maria TM; Christiansen, Lene L; Christensen, Kaare K; Hjelmborg, Jacob J; Baumbach, Jan J; Tan, Qihua Q
Publication Date: 2021

Variant appearance in text: rs6688832
PubMed Link: 34194475
Variant Present in the following documents:
  • Main text
  • fgene-12-675587.pdf
View BVdb publication page



Interaction of HSD11B1 and H6PD polymorphisms in subjects with type 2 diabetes are protective factors against obesity: a cross-sectional study.

Diabetology & Metabolic Syndrome
Chedid, Marcio F MF; do Nascimento, Filipe V FV; de Oliveira, Fernanda S FS; de Souza, Bianca M BM; Kruel, Cleber R P CRP; Gurski, Richard R RR; Canani, Luis H LH; Crispim, Daisy D; Gerchman, Fernando F
Publication Date: 2019

Variant appearance in text: rs6688832
PubMed Link: 31558916
Variant Present in the following documents:
  • Main text
  • 13098_2019_Article_474.pdf
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: rs6688832
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
  • 41419_2019_1453_MOESM27_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; Lehtiö, Janne J
Publication Date: 2018-03-02

Variant appearance in text: rs6688832
PubMed Link: 29500430
Variant Present in the following documents:
  • 41467_2018_3311_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs6688832
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, 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: rs6688832
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Association Analysis between the Polymorphisms of HSD11B1 and H6PD and Risk of Polycystic Ovary Syndrome in Chinese Population.

Plos One
Ju, Rong R; Wu, Wei W; Tang, Qiuqin Q; Wu, Di D; Xia, Yankai Y; Wu, Jie J; Wang, Xinru X
Publication Date: 2015

Variant appearance in text: rs6688832
PubMed Link: 26452272
Variant Present in the following documents:
  • Main text
  • pone.0140326.pdf
View BVdb publication page



Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: rs6688832
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page



Genotype at the P554L variant of the hexose-6 phosphate dehydrogenase gene is associated with carotid intima-medial thickness.

Plos One
Rahman, Thahira J TJ; Walker, Elizabeth A EA; Mayosi, Bongani M BM; Hall, Darroch H DH; Avery, Peter J PJ; Connell, John M C JM; Watkins, Hugh H; Stewart, Paul M PM; Keavney, Bernard B
Publication Date: 2011

Variant appearance in text: rs6688832
PubMed Link: 21858044
Variant Present in the following documents:
View BVdb publication page



Family-based analysis of candidate genes for polycystic ovary syndrome.

The Journal Of Clinical Endocrinology And Metabolism
Ewens, Kathryn G KG; Stewart, Douglas R DR; Ankener, Wendy W; Urbanek, Margrit M; McAllister, Jan M JM; Chen, Chen C; Baig, K Maravet KM; Parker, Stephen C J SC; Margulies, Elliot H EH; Legro, Richard S RS; Dunaif, Andrea A; Strauss, Jerome F JF; Spielman, Richard S RS
Publication Date: 2010-05

Variant appearance in text: rs6688832
PubMed Link: 20200332
Variant Present in the following documents:
  • Main text
View BVdb publication page



Hexose-6-phosphate dehydrogenase: a new risk gene for multiple sclerosis.

European Journal Of Human Genetics : Ejhg
Alcina, Antonio A; Ramagopalan, Sreeram V SV; Fernández, Oscar O; Catalá-Rabasa, Antonio A; Fedetz, María M; Ndagire, Dorothy D; Leyva, Laura L; Arnal, Carmen C; Delgado, Concepción C; Lucas, Miguel M; Izquierdo, Guillermo G; Ebers, George C GC; Matesanz, Fuencisla F
Publication Date: 2010-05

Variant appearance in text: rs6688832
PubMed Link: 19935835
Variant Present in the following documents:
  • Main text
View BVdb publication page



Structural genomic variation in ischemic stroke.

Neurogenetics
Matarin, Mar M; Simon-Sanchez, Javier J; Fung, Hon-Chung HC; Scholz, Sonja S; Gibbs, J Raphael JR; Hernandez, Dena G DG; Crews, Cynthia C; Britton, Angela A; De Vrieze, Fabienne Wavrant FW; Brott, Thomas G TG; Brown, Robert D RD; Worrall, Bradford B BB; Silliman, Scott S; Case, L Douglas LD; Hardy, John A JA; Rich, Stephen S SS; Meschia, James F JF; Singleton, Andrew B AB
Publication Date: 2008-05

Variant appearance in text: rs6688832
PubMed Link: 18288507
Variant Present in the following documents:
  • Main text
View BVdb publication page