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PTEN c.352C>A ;(p.H118N)
Variant ID: 10-89692868-C-A
NM_000314.4(
PTEN
):c.352C>A;(p.H118N)
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: H118N
PubMed Link:
31819097
Variant Present in the following documents:
41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
Protein phosphatase 2A is a negative regulator of IL-2 production in patients with systemic lupus erythematosus.
The Journal Of Clinical Investigation
Katsiari, Christina G CG; Kyttaris, Vasileios C VC; Juang, Yuang-Taung YT; Tsokos, George C GC
Publication Date: 2005-11
Variant appearance in text: PTEN: H118N
PubMed Link:
16224536
Variant Present in the following documents:
Main text
View BVdb publication page