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PCNX1 c.746A>G ;(p.H249R)
Variant ID: 14-71443800-A-G
NM_014982.2(
PCNX1
):c.746A>G;(p.H249R)
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:
Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.
Molecular & Cellular Proteomics : Mcp
Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC
Publication Date: 2021-10-19
Variant appearance in text: pecanex: H249R
PubMed Link:
34673281
Variant Present in the following documents:
mmc2.xlsx, sheet 3
View BVdb publication page
Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.
Molecular & Cellular Proteomics : Mcp
Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC
Publication Date: 2021
Variant appearance in text: pecanex: H249R
PubMed Link:
34673281
Variant Present in the following documents:
mmc2.xlsx, sheet 3
View BVdb publication page
Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.
Nature Neuroscience
Genovese, Giulio G; Fromer, Menachem M; Stahl, Eli A EA; Ruderfer, Douglas M DM; Chambert, Kimberly K; Landén, Mikael M; Moran, Jennifer L JL; Purcell, Shaun M SM; Sklar, Pamela P; Sullivan, Patrick F PF; Hultman, Christina M CM; McCarroll, Steven A SA
Publication Date: 2016-11
Variant appearance in text: PCNX: 746A>G
PubMed Link:
27694994
Variant Present in the following documents:
NIHMS815183-supplement-supp_table3.xlsx, sheet 1
View BVdb publication page