PRKDC c.1149C>T ;(p.F383=)

Variant ID: 8-48849042-G-A

NM_006904.6(PRKDC):c.1149C>T;(p.F383=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics
Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2015-12

Variant appearance in text: PRKDC: F383F
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
View BVdb publication page



Genome resequencing and bioinformatic analysis of SNP containing candidate genes in the autoimmune vitiligo Smyth line chicken model.

Bmc Genomics
Jang, Hyeon-Min HM; Erf, Gisela F GF; Rowland, Kaylee C KC; Kong, Byung-Whi BW
Publication Date: 2014-08-23

Variant appearance in text: PRKDC: 1149C>T
PubMed Link: 25151476
Variant Present in the following documents:
  • Main text
  • 12864_2013_Article_6386.pdf
View BVdb publication page