NAT10 c.7C>G ;(p.R3G)

Variant ID: 11-34129779-C-G

NM_024662.2(NAT10):c.7C>G;(p.R3G)

This variant was identified in 3 publications

View GRCh38 version.




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: NAT10: R3G
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 9
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: NAT10: R3G
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 9
View BVdb publication page



Exome Array Analysis of Early-Onset Ischemic Stroke.

Stroke
Jaworek, Thomas T; Ryan, Kathleen A KA; Gaynor, Brady J BJ; McArdle, Patrick F PF; Stine, Oscar C OC; OConnor, Timothy D TD; Lopez, Haley H; Aparicio, Hugo J HJ; Gao, Yan Y; Lin, Xiaochen X; Groves, Megan L ML; Flaherty, Matthew L ML; Liu, Simin S; Yang, Qiong Q; Wilson, James J; Seshadri, Sudha S; Kittner, Steven J SJ; Mitchell, Braxton D BD; Xu, Huichun H; Cole, John W JW
Publication Date: 2020-11

Variant appearance in text: rs140188192
PubMed Link: 32912094
Variant Present in the following documents:
  • Main text
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: NAT10: 7C>G; Arg3Gly
PubMed Link: 27694994
Variant Present in the following documents:
  • NIHMS815183-supplement-supp_table3.xlsx, sheet 1
View BVdb publication page