TBC1D30 c.229C>T ;(p.L77F)

Variant ID: 12-65222236-C-T

NM_015279.1(TBC1D30):c.229C>T;(p.L77F)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The genomic landscape of cutaneous SCC reveals drivers and a novel azathioprine associated mutational signature.

Nature Communications
Inman, Gareth J GJ; Wang, Jun J; Nagano, Ai A; Alexandrov, Ludmil B LB; Purdie, Karin J KJ; Taylor, Richard G RG; Sherwood, Victoria V; Thomson, Jason J; Hogan, Sarah S; Spender, Lindsay C LC; South, Andrew P AP; Stratton, Michael M; Chelala, Claude C; Harwood, Catherine A CA; Proby, Charlotte M CM; Leigh, Irene M IM
Publication Date: 2018-09-10

Variant appearance in text: TBC1D30: L77F
PubMed Link: 30202019
Variant Present in the following documents:
  • 41467_2018_6027_MOESM5_ESM.xlsx, sheet 1
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: TBC1D30: 229C>T
PubMed Link: 25151476
Variant Present in the following documents:
  • Main text
  • 12864_2013_Article_6386.pdf
View BVdb publication page