GCFC2 c.1812+347C>T

Variant ID: 2-75906972-G-A

NM_003203.4(GCFC2):c.1812+347C>T

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs4853169
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Loss of heterozygosity of essential genes represents a widespread class of potential cancer vulnerabilities.

Nature Communications
Nichols, Caitlin A CA; Gibson, William J WJ; Brown, Meredith S MS; Kosmicki, Jack A JA; Busanovich, John P JP; Wei, Hope H; Urbanski, Laura M LM; Curimjee, Naomi N; Berger, Ashton C AC; Gao, Galen F GF; Cherniack, Andrew D AD; Dhe-Paganon, Sirano S; Paolella, Brenton R BR; Beroukhim, Rameen R
Publication Date: 2020-05-20

Variant appearance in text: rs4853169
PubMed Link: 32433464
Variant Present in the following documents:
  • 41467_2020_16399_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



The dyslexia candidate locus on 2p12 is associated with general cognitive ability and white matter structure.

Plos One
Scerri, Thomas S TS; Darki, Fahimeh F; Newbury, Dianne F DF; Whitehouse, Andrew J O AJ; Peyrard-Janvid, Myriam M; Matsson, Hans H; Ang, Qi W QW; Pennell, Craig E CE; Ring, Susan S; Stein, John J; Morris, Andrew P AP; Monaco, Anthony P AP; Kere, Juha J; Talcott, Joel B JB; Klingberg, Torkel T; Paracchini, Silvia S
Publication Date: 2012

Variant appearance in text: rs4853169
PubMed Link: 23209710
Variant Present in the following documents:
  • Main text
  • pone.0050321.pdf
View BVdb publication page