MAP3K1 c.2416G>C ;(p.D806H)

Variant ID: 5-56177443-G-C

NM_005921.1(MAP3K1):c.2416G>C;(p.D806H)

This variant was identified in 18 publications

View GRCh38 version.




Publications:


Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology
Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A
Publication Date: 2022

Variant appearance in text: rs702689
PubMed Link: 36582804
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Heritable genomic diversity in breast cancer driver genes and associations with risk in a Chilean population.

Biological Research
Morales-Pison, Sebastian S; Gonzalez-Hormazabal, Patricio P; Tapia, Julio C JC; Salas-Burgos, Alexis A; Ampuero, Sandra S; Gómez, Fernando F; Waugh, Enrique E; Reyes, José Miguel JM; Jara, Lilian L
Publication Date: 2022-05-31

Variant appearance in text: rs702689
PubMed Link: 35637532
Variant Present in the following documents:
  • Main text
  • 40659_2022_Article_384.pdf
View BVdb publication page



Association Study of MAP3K1 SNPs and Risk Factors with Susceptibility to Esophageal Squamous Cell Carcinoma in a Chinese Population: A Case-Control Study.

Pharmacogenomics And Personalized Medicine
Yang, Yiling Y; Zhou, Qiang Q; Pan, Huiwen H; Wang, Liming L; Qian, Cheng C
Publication Date: 2020

Variant appearance in text: rs702689
PubMed Link: 32753933
Variant Present in the following documents:
  • Main text
  • pgpm-13-189.pdf
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Preclinical safety studies of human embryonic stem cell-derived retinal pigment epithelial cells for the treatment of age-related macular degeneration.

Stem Cells Translational Medicine
Petrus-Reurer, Sandra S; Kumar, Pankaj P; Padrell Sánchez, Sara S; Aronsson, Monica M; André, Helder H; Bartuma, Hammurabi H; Plaza Reyes, Alvaro A; Nandrot, Emeline F EF; Kvanta, Anders A; Lanner, Fredrik F
Publication Date: 2020-08

Variant appearance in text: rs702689
PubMed Link: 32319201
Variant Present in the following documents:
  • SCT3-9-936-s001.pdf
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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
Publication Date: 2020-04-20

Variant appearance in text: rs702689
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Germline Variants in Driver Genes of Breast Cancer and Their Association with Familial and Early-Onset Breast Cancer Risk in a Chilean Population.

Cancers
Fernandez-Moya, Alejandro A; Morales, Sebastian S; Arancibia, Trinidad T; Gonzalez-Hormazabal, Patricio P; Tapia, Julio C JC; Godoy-Herrera, Raul R; Reyes, Jose Miguel JM; Gomez, Fernando F; Waugh, Enrique E; Jara, Lilian L
Publication Date: 2020-01-20

Variant appearance in text: rs702689
PubMed Link: 31968594
Variant Present in the following documents:
  • Main text
  • cancers-12-00249.pdf
View BVdb publication page



MAP3K1 rs889312 genotypes influence survival outcomes of Chinese gastric cancer patients who received adjuvant chemotherapy based on platinum and fluorouracil regimes.

Oncotargets And Therapy
Yang, Jian J; Zheng, Wei W; Xu, Zhi Z; Chen, Jinfei J
Publication Date: 2019

Variant appearance in text: rs702689
PubMed Link: 31686841
Variant Present in the following documents:
  • Main text
  • ott-12-6843.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: rs702689
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
View BVdb publication page



Assembling the jigsaw puzzle: CBX2 isoform 2 and its targets in disorders/differences of sex development.

Molecular Genetics & Genomic Medicine
Sproll, Patrick P; Eid, Wassim W; Gomes, Camila R CR; Mendonca, Berenice B BB; Gomes, Nathalia L NL; Costa, Elaine M-F EM; Biason-Lauber, Anna A
Publication Date: 2018-09

Variant appearance in text: rs702689
PubMed Link: 29998616
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of genetic variants for clinical management of familial colorectal tumors.

Bmc Medical Genetics
Dominguez-Valentin, Mev M; Nakken, Sigve S; Tubeuf, Hélène H; Vodak, Daniel D; Ekstrøm, Per Olaf PO; Nissen, Anke M AM; Morak, Monika M; Holinski-Feder, Elke E; Martins, Alexandra A; Møller, Pål P; Hovig, Eivind E
Publication Date: 2018-02-20

Variant appearance in text: rs702689
PubMed Link: 29458332
Variant Present in the following documents:
  • Main text
  • 12881_2018_Article_533.pdf
View BVdb publication page



Genetic Variation in MAP3K1 Associates with Ventilator-Free Days in Acute Respiratory Distress Syndrome.

American Journal Of Respiratory Cell And Molecular Biology
Morrell, Eric D ED; O'Mahony, D Shane DS; Glavan, Bradford J BJ; Harju-Baker, Susanna S; Nguyen, Catherine C; Gunderson, Scott S; Abrahamson, Aaron A; Radella, Frank F; Rona, Gail G; Black, R Anthony RA; Wurfel, Mark M MM
Publication Date: 2018-01

Variant appearance in text: rs702689
PubMed Link: 28858533
Variant Present in the following documents:
  • Main text
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: rs702689
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Next-generation sequencing reveals lymph node metastasis associated genetic markers in colorectal cancer.

Experimental And Therapeutic Medicine
Xie, Ni N; Yao, Yujiang Y; Wan, Lili L; Zhu, Ting T; Liu, Litao L; Yuan, Jianhui J
Publication Date: 2017-07

Variant appearance in text: rs702689
PubMed Link: 28672935
Variant Present in the following documents:
  • Main text
View BVdb publication page



MAP3K1-related gonadal dysgenesis: Six new cases and review of the literature.

American Journal Of Medical Genetics. Part C, Seminars In Medical Genetics
Granados, Andrea A; Alaniz, Veronica I VI; Mohnach, Lauren L; Barseghyan, Hayk H; Vilain, Eric E; Ostrer, Harry H; Quint, Elisabeth H EH; Chen, Ming M; Keegan, Catherine E CE
Publication Date: 2017-06

Variant appearance in text: rs702689
PubMed Link: 28504475
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic polymorphisms and risk of recurrent wheezing in pediatric age.

Bmc Pulmonary Medicine
Esposito, Susanna S; Ierardi, Valentina V; Daleno, Cristina C; Scala, Alessia A; Terranova, Leonardo L; Tagliabue, Claudia C; Rios, Walter Peves WP; Pelucchi, Claudio C; Principi, Nicola N
Publication Date: 2014-10-18

Variant appearance in text: rs702689
PubMed Link: 25326706
Variant Present in the following documents:
  • Main text
  • 12890_2014_Article_598.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: rs702689
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page



Genetic polymorphisms associated with carotid artery intima-media thickness and coronary artery calcification in women of the Kronos Early Estrogen Prevention Study.

Physiological Genomics
Miller, Virginia M VM; Petterson, Tanya M TM; Jeavons, Elysia N EN; Lnu, Abhinita S AS; Rider, David N DN; Heit, John A JA; Cunningham, Julie M JM; Huggins, Gordon S GS; Hodis, Howard N HN; Budoff, Matthew J MJ; Santoro, Nanette N; Hopkins, Paul N PN; Lobo, Rogerio A RA; Manson, JoAnn E JE; Naftolin, Frederick F; Taylor, Hugh S HS; Harman, S Mitchell SM; de Andrade, Mariza M
Publication Date: 2013-01-15

Variant appearance in text: rs702689
PubMed Link: 23188791
Variant Present in the following documents:
  • Main text
View BVdb publication page



MAP kinase genes and colon and rectal cancer.

Carcinogenesis
Slattery, Martha L ML; Lundgreen, Abbie A; Wolff, Roger K RK
Publication Date: 2012-12

Variant appearance in text: rs702689
PubMed Link: 23027623
Variant Present in the following documents:
  • Main text
View BVdb publication page