KIT c.67+12766T>C

Variant ID: 4-55537014-T-C

NM_000222.2(KIT):c.67+12766T>C

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Inherited variations in human pigmentation-related genes modulate cutaneous melanoma risk and clinicopathological features in Brazilian population.

Scientific Reports
Lourenço, Gustavo Jacob GJ; Oliveira, Cristiane C; Carvalho, Benilton Sá BS; Torricelli, Caroline C; Silva, Janet Keller JK; Gomez, Gabriela Vilas Bôas GVB; Rinck-Junior, José Augusto JA; Oliveira, Wesley Lima WL; Vazquez, Vinicius Lima VL; Serrano, Sergio Vicente SV; Moraes, Aparecida Machado AM; Lima, Carmen Silvia Passos CSP
Publication Date: 2020-07-22

Variant appearance in text: rs2017472
PubMed Link: 32699307
Variant Present in the following documents:
View BVdb publication page



Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs2017472
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



An epistatic interaction between the PAX8 and STK17B genes in papillary thyroid cancer susceptibility.

Plos One
Landa, Iñigo I; Boullosa, Cesar C; Inglada-Pérez, Lucía L; Sastre-Perona, Ana A; Pastor, Susana S; Velázquez, Antonia A; Mancikova, Veronika V; Ruiz-Llorente, Sergio S; Schiavi, Francesca F; Marcos, Ricard R; Malats, Nuria N; Opocher, Giuseppe G; Diaz-Uriarte, Ramon R; Santisteban, Pilar P; Valencia, Alfonso A; Robledo, Mercedes M
Publication Date: 2013

Variant appearance in text: rs2017472
PubMed Link: 24086368
Variant Present in the following documents:
  • Main text
  • pone.0074765.pdf
View BVdb publication page