MYO5B c.145G>C ;(p.E49Q)

Variant ID: 18-47566678-C-G

NM_001080467.2(MYO5B):c.145G>C;(p.E49Q)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


metPropagate: network-guided propagation of metabolomic information for prioritization of metabolic disease genes.

Npj Genomic Medicine
Graham Linck, Emma J EJ; Richmond, Phillip A PA; Tarailo-Graovac, Maja M; Engelke, Udo U; Kluijtmans, Leo A J LAJ; Coene, Karlien L M KLM; Wevers, Ron A RA; Wasserman, Wyeth W; van Karnebeek, Clara D M CDM; Mostafavi, Sara S
Publication Date: 2020

Variant appearance in text: MYO5B: Glu49Gln
PubMed Link: 32637154
Variant Present in the following documents:
  • 41525_2020_132_MOESM1_ESM.pdf
View BVdb publication page



A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20

Variant appearance in text: MYO5B: E49Q
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4
View BVdb publication page



Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25

Variant appearance in text: MYO5B: E49Q; rs141998504
PubMed Link: 28440294
Variant Present in the following documents:
  • srep46105-s2.xls, sheet 9
View BVdb publication page



NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014

Variant appearance in text: MYO5B: E49Q; rs141998504
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
View BVdb publication page