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PTEN c.316G>C ;(p.E106Q)
Variant ID: 10-89692832-G-C
NM_000314.4(
PTEN
):c.316G>C;(p.E106Q)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.
Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09
Variant appearance in text: PTEN: E106Q
PubMed Link:
31819097
Variant Present in the following documents:
41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
mTORC1 enhancement of STIM1-mediated store-operated Ca2+ entry constrains tuberous sclerosis complex-related tumor development.
Oncogene
Peng, H H; Liu, J J; Sun, Q Q; Chen, R R; Wang, Y Y; Duan, J J; Li, C C; Li, B B; Jing, Y Y; Chen, X X; Mao, Q Q; Xu, K-F KF; Walker, C L CL; Li, J J; Wang, J J; Zhang, H H
Publication Date: 2013-09-26
Variant appearance in text: PTEN: E106Q
PubMed Link:
23108404
Variant Present in the following documents:
Main text
View BVdb publication page