Bibliome.ai browser hg19
Search
About
Stats
FAQ
TSC2 c.3713C>T ;(p.A1238V)
Variant ID: 16-2131698-C-T
NM_000548.3(
TSC2
):c.3713C>T;(p.A1238V)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Genetic variants in African-American and Hispanic patients with breast cancer.
Oncology Letters
Dutta, Pranabananda P; Keung, Man Y MY; Wu, Yanyuan Y; Vadgama, Jaydutt V JV
Publication Date: 2023-02
Variant appearance in text: TSC2: 3713C>T
PubMed Link:
36644153
Variant Present in the following documents:
Supplementary_Data5.xlsx, sheet 1
View BVdb publication page
Decoding of novel missense TSC2 gene variants using in-silico methods.
Bmc Medical Genetics
Sudarshan, Shruthi S; Kumar, Manoj M; Kaur, Punit P; Kumar, Atin A; G, Sethuraman S; Sapra, Savita S; Gulati, Sheffali S; Gupta, Neerja N; Kabra, Madhulika M; Roy Chowdhury, Madhumita M
Publication Date: 2019-10-26
Variant appearance in text: TSC2: Ala1238Val
PubMed Link:
31655562
Variant Present in the following documents:
Main text
12881_2019_Article_891.pdf
View BVdb publication page
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.
Plos One
Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK
Publication Date: 2018
Variant appearance in text: TSC2: 3713C>T; Pro1238Leu
PubMed Link:
29641532
Variant Present in the following documents:
pone.0194098.s003.xlsx, sheet 2
View BVdb publication page