FANCA c.3066+206C>G

Variant ID: 16-89818340-G-C

NM_000135.2(FANCA):c.3066+206C>G

This variant was identified in 4 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: rs3743861
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



DNA repair and cancer in colon and rectum: Novel players in genetic susceptibility.

International Journal Of Cancer
Pardini, Barbara B; Corrado, Alda A; Paolicchi, Elisa E; Cugliari, Giovanni G; Berndt, Sonja I SI; Bezieau, Stephane S; Bien, Stephanie A SA; Brenner, Hermann H; Caan, Bette J BJ; Campbell, Peter T PT; Casey, Graham G; Chan, Andrew T AT; Chang-Claude, Jenny J; Cotterchio, Michelle M; Gala, Manish M; Gallinger, Steven J SJ; Haile, Robert W RW; Harrison, Tabitha A TA; Hayes, Richard B RB; Hoffmeister, Michael M; Hopper, John L JL; Hsu, Li L; Huyghe, Jeroen J; Jenkins, Mark A MA; Le Marchand, Loic L; Lin, Yi Y; Lindor, Noralane M NM; Nan, Hongmei H; Newcomb, Polly A PA; Ogino, Shuji S; Potter, John D JD; Schoen, Robert E RE; Slattery, Martha L ML; White, Emily E; Vodickova, Ludmila L; Vymetalkova, Veronika V; Vodicka, Pavel P; Gemignani, Federica F; Peters, Ulrike U; Naccarati, Alessio A; Landi, Stefano S
Publication Date: 2020-01-15

Variant appearance in text: rs3743861
PubMed Link: 31209889
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: FANCA: 3066+206C>G; rs3743861
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
View BVdb publication page



Genome-wide association study in 176,678 Europeans reveals genetic loci for tanning response to sun exposure.

Nature Communications
Visconti, Alessia A; Duffy, David L DL; Liu, Fan F; Zhu, Gu G; Wu, Wenting W; Chen, Yan Y; Hysi, Pirro G PG; Zeng, Changqing C; Sanna, Marianna M; Iles, Mark M MM; Kanetsky, Peter A PA; Demenais, Florence F; Hamer, Merel A MA; Uitterlinden, Andre G AG; Ikram, M Arfan MA; Nijsten, Tamar T; Martin, Nicholas G NG; Kayser, Manfred M; Spector, Tim D TD; Han, Jiali J; Bataille, Veronique V; Falchi, Mario M
Publication Date: 2018-05-08

Variant appearance in text: rs3743861
PubMed Link: 29739929
Variant Present in the following documents:
  • 41467_2018_4086_MOESM1_ESM.pdf
View BVdb publication page