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PTEN c.471A>C ;(p.E157D)
Variant ID: 10-89692987-A-C
NM_000314.4(
PTEN
):c.471A>C;(p.E157D)
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:
Genetics and Clinical Characteristics of PPARγ Variant-Induced Diabetes in a Chinese Han Population.
Frontiers In Endocrinology
Gong, Siqian S; Han, Xueyao X; Li, Meng M; Cai, Xiaoling X; Liu, Wei W; Luo, Yingying Y; Zhang, Si-Min SM; Zhou, Lingli L; Ma, Yumin Y; Huang, Xiuting X; Li, Yufeng Y; Zhou, Xianghai X; Zhu, Yu Y; Wang, Qiuping Q; Chen, Ling L; Ren, Qian Q; Zhang, Ping P; Ji, Linong L
Publication Date: 2021
Variant appearance in text: PTEN: E157D
PubMed Link:
34764936
Variant Present in the following documents:
Main text
View BVdb publication page
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: E157D
PubMed Link:
31819097
Variant Present in the following documents:
41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page