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PTEN c.304_305delinsGC ;(p.K102A)
Variant ID: 10-89692820-AA-GC
NM_000314.4(
PTEN
):c.304_305delinsGC;(p.K102A)
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:
Smad7 Enhances TGF-β-Induced Transcription of c-Jun and HDAC6 Promoting Invasion of Prostate Cancer Cells.
Iscience
Thakur, Noopur N; Hamidi, Anahita A; Song, Jie J; Itoh, Susumu S; Bergh, Anders A; Heldin, Carl-Henrik CH; Landström, Maréne M
Publication Date: 2020-09-03
Variant appearance in text: PTEN: K102A
PubMed Link:
32888405
Variant Present in the following documents:
Main text
main.pdf
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: K102A
PubMed Link:
31819097
Variant Present in the following documents:
41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page