F2 c.1107T>C ;(p.D369=)

Variant ID: 11-46748364-T-C

NM_000506.3(F2):c.1107T>C;(p.D369=)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


D2HGDH regulates alpha-ketoglutarate levels and dioxygenase function by modulating IDH2.

Nature Communications
Lin, An-Ping AP; Abbas, Saman S; Kim, Sang-Woo SW; Ortega, Manoela M; Bouamar, Hakim H; Escobedo, Yissela Y; Varadarajan, Prakash P; Qin, Yuejuan Y; Sudderth, Jessica J; Schulz, Eduard E; Deutsch, Alexander A; Mohan, Sumitra S; Ulz, Peter P; Neumeister, Peter P; Rakheja, Dinesh D; Gao, Xiaoli X; Hinck, Andrew A; Weintraub, Susan T ST; DeBerardinis, Ralph J RJ; Sill, Heinz H; Dahia, Patricia L M PL; Aguiar, Ricardo C T RC
Publication Date: 2015-07-16

Variant appearance in text: F2: 1107T>C; Asp369Asp
PubMed Link: 26178471
Variant Present in the following documents:
  • ncomms8768-s1.pdf
View BVdb publication page