SI c.1522G>A ;(p.E508K)

Variant ID: 3-164767654-C-T

NM_001041.3(SI):c.1522G>A;(p.E508K)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genomic characterization of a newly established esophageal squamous cell carcinoma cell line from China and published esophageal squamous cell carcinoma cell lines.

Cancer Cell International
Li, Xiang X; Tian, Dongping D; Guo, Yi Y; Qiu, Shiyue S; Xu, Zexin Z; Deng, Wen W; Su, Min M
Publication Date: 2020

Variant appearance in text: SI: 1522G>A; E508K
PubMed Link: 32489320
Variant Present in the following documents:
  • 12935_2020_1268_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



Association of a low-frequency variant in HNF1A with type 2 diabetes in a Latino population.

Jama
, ; Estrada, Karol K; Aukrust, Ingvild I; Bjørkhaug, Lise L; Burtt, Noël P NP; Mercader, Josep M JM; García-Ortiz, Humberto H; Huerta-Chagoya, Alicia A; Moreno-Macías, Hortensia H; Walford, Geoffrey G; Flannick, Jason J; Williams, Amy L AL; Gómez-Vázquez, María J MJ; Fernandez-Lopez, Juan C JC; Martínez-Hernández, Angélica A; Jiménez-Morales, Silvia S; Centeno-Cruz, Federico F; Mendoza-Caamal, Elvia E; Revilla-Monsalve, Cristina C; Islas-Andrade, Sergio S; Córdova, Emilio J EJ; Soberón, Xavier X; González-Villalpando, María E ME; Henderson, E E; Wilkens, Lynne R LR; Le Marchand, Loic L; Arellano-Campos, Olimpia O; Ordóñez-Sánchez, Maria L ML; Rodríguez-Torres, Maribel M; Rodríguez-Guillén, Rosario R; Riba, Laura L; Najmi, Laeya A LA; Jacobs, Suzanne B R SB; Fennell, Timothy T; Gabriel, Stacey S; Fontanillas, Pierre P; Hanis, Craig L CL; Lehman, Donna M DM; Jenkinson, Christopher P CP; Abboud, Hanna E HE; Bell, Graeme I GI; Cortes, Maria L ML; Boehnke, Michael M; González-Villalpando, Clicerio C; Orozco, Lorena L; Haiman, Christopher A CA; Tusié-Luna, Teresa T; Aguilar-Salinas, Carlos A CA; Altshuler, David D; Njølstad, Pål R PR; Florez, Jose C JC; MacArthur, Daniel G DG
Publication Date: 2014-06-11

Variant appearance in text: SI: 1522G>A
PubMed Link: 24915262
Variant Present in the following documents:
  • Main text
View BVdb publication page